A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523589



Internal ID18821870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52443831..52473994hg38UCSC Ensembl
Innerchr12:52837615..52867778hg19UCSC Ensembl
Innerchr12:51123882..51154045hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3830164
hg1930164
hg1830164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039931
Supporting Variants
Samples
Known GenesKRT6B, KRT6C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523589
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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