A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052769



Internal ID18795300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52387792hg38UCSC Ensembl
Innerchr12:52688672..52781576hg19UCSC Ensembl
Innerchr12:50974939..51067843hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3892905
hg1992905
hg1892905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523557
Samples
Known GenesKRT83, 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)nsv1052769
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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