A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663128



Internal ID15399780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41011504..41015129hg38UCSC Ensembl
Innerchr2:41238644..41242269hg19UCSC Ensembl
Innerchr2:41092148..41095773hg18UCSC Ensembl
Innerchr2:41150295..41153920hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383626
hg193626
hg183626
hg173626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515841
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663128
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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