A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523581



Internal ID18475176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52394255hg38UCSC Ensembl
Innerchr12:52688672..52788039hg19UCSC Ensembl
Innerchr12:50974939..51074306hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3899368
hg1999368
hg1899368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046056
Supporting Variants
Samples
Known GenesKRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523581
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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