A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704405



Internal ID15094371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20618698..20676626hg38UCSC Ensembl
Innerchr2:20818458..20876386hg19UCSC Ensembl
Innerchr2:20681939..20739867hg18UCSC Ensembl
Innerchr2:20740086..20798014hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3857929
hg1957929
hg1857929
hg1757929
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527901
Supporting Variants
Samples
Known GenesGDF7, HS1BP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704405
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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