A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729130



Internal ID19027411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94662150..94907728hg38UCSC Ensembl
Innerchr2:95327875..95573473hg19UCSC Ensembl
Innerchr2:94691602..94937200hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38245579
hg19245599
hg18245599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001915
Supporting Variants
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, TEKT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729130
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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