A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523541



Internal ID18475136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52285116..52389052hg38UCSC Ensembl
Innerchr12:52678900..52782836hg19UCSC Ensembl
Innerchr12:50965167..51069103hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38103937
hg19103937
hg18103937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038963
Supporting Variants
Samples
Known GenesKRT81, 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)nssv3523541
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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