A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701414



Internal ID15438066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42989395..43020480hg38UCSC Ensembl
Innerchr2:43216535..43247619hg19UCSC Ensembl
Innerchr2:43070039..43101123hg18UCSC Ensembl
Innerchr2:43128186..43159270hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831086
hg1931085
hg1831085
hg1731085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525307
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701414
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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