A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704313



Internal ID15094279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19979394..20053652hg38UCSC Ensembl
Innerchr1:20305887..20380145hg19UCSC Ensembl
Innerchr1:20178474..20252732hg18UCSC Ensembl
Innerchr1:20051193..20125451hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3874259
hg1974259
hg1874259
hg1774259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527818
Supporting Variants
Samples
Known GenesPLA2G2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704313
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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