A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693628



Internal ID15083594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52293632..52382359hg38UCSC Ensembl
Innerchr12:52687416..52776143hg19UCSC Ensembl
Innerchr12:50973683..51062410hg18UCSC Ensembl
Innerchr12:50973683..51062410hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3888728
hg1988728
hg1888728
hg1788728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516938
Supporting Variants
Samples
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693628
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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