A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3656492



Internal ID18608087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74697471..75115763hg38UCSC Ensembl
Innerchr7:74111803..74531569hg19UCSC Ensembl
Innerchr7:73749739..74169505hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38418293
hg19419767
hg18419767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032137
Supporting Variants
Samples
Known GenesGTF2I, GTF2IRD2, GTF2IRD2B, NCF1, PMS2P5, STAG3L2, WBSCR16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3656492
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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