A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699742



Internal ID15089708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49960654..49972517hg38UCSC Ensembl
Innerchr12:50354437..50366300hg19UCSC Ensembl
Innerchr12:48640704..48652567hg18UCSC Ensembl
Innerchr12:48640704..48652567hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3811864
hg1911864
hg1811864
hg1711864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523899
Supporting Variants
Samples
Known GenesAQP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699742
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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