A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655081



Internal ID15045047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52298423..52383729hg38UCSC Ensembl
Innerchr12:52692207..52777513hg19UCSC Ensembl
Innerchr12:50978474..51063780hg18UCSC Ensembl
Innerchr12:50978474..51063780hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3885307
hg1985307
hg1885307
hg1785307
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)nssv655081
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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