A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699546



Internal ID15436198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105644847..105646262hg38UCSC Ensembl
Innerchr2:106261304..106262719hg19UCSC Ensembl
Innerchr2:105627736..105629151hg18UCSC Ensembl
Innerchr2:105719822..105721237hg17UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
hg171416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523730
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699546
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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