GSM1442918[Accession] - GEO DataSets

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Items: 3

Select item 2000591501.

A High-Resolution Copy Number Variation Resource for Clinical Genetics

(Submitter supplied) Purpose: Chromosomal microarray analysis (CMA) to assess copy number variation (CNV) content is now used as a first tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA). Over 100 cytogenetic labs worldwide are using the Affymetrix CytoScan HD 2.7M array to genotype >15,000 clinical samples per month. The aim of this study is to develop a CNV resource from a population control cohort that can be used as a community resource for interpretation of clinical and research samples. more...

Organism:: Homo sapiens

Type:: SNP genotyping by SNP array; Genome variation profiling by SNP array; Genome variation profiling by genome tiling array

Platform:: GPL16131
873 Samples

Download data: CEL, CYCHP

Series

Accession:: GSE59150

ID:: 200059150

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Select item 1000161312.

[CytoScanHD_Array] Affymetrix CytoScan HD Array

(Submitter supplied) #%create_date=2011-12-01 GMT-08:00 10:25:44 #%chip_type=CytoScanHD_Array #%genome-species=Homo sapiens #%genome-version=hg19 #%genome-version-ucsc=hg19 #%genome-version-ncbi=GRCh37 #%genome-version-create_date=2009-02-00 #%dbSNP_date=2010-09-23 #%dbSNP_version=132 #%dgv-date=2010-10-00 #%dgv-version=10 #%hapmap-date=2008-01-08 #%hapmap-version=23 #%netaffx-annotation-date=2011-12-01 #%netaffx-annotation-netaffx-build=32.1 #%netaffx-annotation-tabular-format-version=1.0 #%netaffx-annotation-docgen-method=com.affymetrix.database.docgen.DocGenDriver #%netaffx-annotation-docgen-version=cluster_friendly_submission #%create_date=2011-12-01 GMT-08:00 10:25:09 #%chip_type=CytoScanHD_Array #%genome-species=Homo sapiens #%genome-version=hg19 #%genome-version-ucsc=hg19 #%genome-version-ncbi=GRCh37 #%genome-version-create_date=2009-02-00 #%dbSNP_date=2010-09-23 #%dbSNP_version=132 #%dgv-date=2010-10-00 #%dgv-version=10 #%netaffx-annotation-date=2011-12-01 #%netaffx-annotation-netaffx-build=32.1 #%netaffx-annotation-tabular-format-version=1.0 #%netaffx-annotation-docgen-method=com.affymetrix.database.docgen.DocGenDriver #%netaffx-annotation-docgen-version=cluster_friendly_submission ##This database/product contains information from the Online Mendelian Inheritance in Man(R) (OMIM(R)) database, which has been obtained under a license from the Johns Hopkins University. more...