A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699890



Internal ID15436542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104346837..104354366hg38UCSC Ensembl
Innerchr2:104963295..104970824hg19UCSC Ensembl
Innerchr2:104329727..104337256hg18UCSC Ensembl
Innerchr2:104421813..104429342hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg387530
hg197530
hg187530
hg177530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524027
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699890
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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