A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046552



Internal ID18789083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52285116..52351174hg38UCSC Ensembl
Innerchr12:52678900..52744958hg19UCSC Ensembl
Innerchr12:50965167..51031225hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3866059
hg1966059
hg1866059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1502n100
Supporting Variantsnssv3523540
Samples
Known GenesKRT81, KRT83, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046552
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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