A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696138



Internal ID15086104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130845653..130846832hg38UCSC Ensembl
Innerchr2:131603226..131604405hg19UCSC Ensembl
Innerchr2:131319696..131320875hg18UCSC Ensembl
Innerchr2:131436958..131438137hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381180
hg191180
hg181180
hg171180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517274
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696138
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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