A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667976



Internal ID15404628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53617765..53619410hg38UCSC Ensembl
Innerchr2:53844902..53846547hg19UCSC Ensembl
Innerchr2:53698406..53700051hg18UCSC Ensembl
Innerchr2:53756553..53758198hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381646
hg191646
hg181646
hg171646
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)nssv667976
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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