Agilent CGH 180k Microarray CNVs.

Figshare2015-12-03 更新2026-04-29 收录

数据链接：

https://figshare.com/articles/dataset/_Prioritizing_Clinically_Relevant_Copy_Number_Variation_from_Genetic_Interactions_and_Gene_Function_Data_/1565492 数据链接链接失效反馈

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The columns are chromosome, start, end, type [DUP/DEL], phenotype, classification [HARMFUL/BENIGN]. (TXT)

创建时间：

2015-12-03

Additional file 2 of Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data

基因组学

拷贝数变异

Additional file 2 CNVR and associated CNV loci. CNVR and associated CNV loci coordinates and scores for the four quality bins, based on long-read score (all, score >1, score >5) and long-read an

DataCite Commons2021-11-18 更新70

Somatic CNV profile of congenital ectopic thyroids

甲状腺功能异常

拷贝数变异

To assess whether specific genes have relevant somatic genetic or epigenetic alterations in ectopic tissue, we used a combined analysis of transcriptome (confirmed by qRT-PCR on 68 genes), methylome,

NIAID Data Ecosystem60

Additional file 1: Table S1. of Assessing the reproducibility of exome copy number variations predictions

基因组学

拷贝数变异

Lists all the IDs used in this study. Table S2 gives details of independent dataset analysis. Tables S3 and S4 give details of size and capture analyses. Table S5 lists ClinSeqÂŽ CNVs identified from

Mendeley Data2024-06-27 更新50

A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (GenomeWideSNP_6). Homo sapiens

拷贝数变异

基因芯片平台评估

Systematic evaluation of eleven array platforms commonly used for CNV detection to address parameters of quality and CNV calling. Overall design: 36 Samples

NIAID Data Ecosystem60

VMR for genes with different duplication states. Shown is the average VMR for the whole genome, unique genes, segmental duplicated genes and tandem duplicated genes.

基因重复分析

拷贝数变异

VMR for genes with different duplication states. Shown is the average VMR for the whole genome, unique genes, segmental duplicated genes and tandem duplicated genes.

NIAID Data Ecosystem60

Agilent CGH 180k Microarray CNVs.

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