A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004156



Internal ID19093373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36123960..36341979hg38UCSC Ensembl
Innerchr2:36351103..36569122hg19UCSC Ensembl
Innerchr2:36204607..36422626hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38218020
hg19218020
hg18218020
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581470, nssv3725964
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004156
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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