A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674310



Internal ID15410962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53617765..53619352hg38UCSC Ensembl
Innerchr2:53844902..53846489hg19UCSC Ensembl
Innerchr2:53698406..53699993hg18UCSC Ensembl
Innerchr2:53756553..53758140hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381588
hg191588
hg181588
hg171588
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516185
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674310
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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