A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005678



Internal ID19094895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196112129..196261404hg38UCSC Ensembl
Innerchr2:196976853..197126128hg19UCSC Ensembl
Innerchr2:196685098..196834373hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38149276
hg19149276
hg18149276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583984
Samples
Known GenesHECW2, STK17B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005678
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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