A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692918



Internal ID15429570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20614823..20655416hg38UCSC Ensembl
Innerchr2:20814583..20855176hg19UCSC Ensembl
Innerchr2:20678064..20718657hg18UCSC Ensembl
Innerchr2:20736211..20776804hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3840594
hg1940594
hg1840594
hg1740594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517472
Supporting Variants
Samples
Known GenesHS1BP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692918
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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