A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689541



Internal ID15079507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32501246..32544284hg38UCSC Ensembl
Innerchr2:32726313..32769351hg19UCSC Ensembl
Innerchr2:32579817..32622855hg18UCSC Ensembl
Innerchr2:32637964..32681002hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3843039
hg1943039
hg1843039
hg1743039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516173
Supporting Variants
Samples
Known GenesBIRC6, MIR558
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689541
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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