A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3513088



Internal ID18464683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19107917..19493057hg38UCSC Ensembl
Innerchr12:19260851..19645991hg19UCSC Ensembl
Innerchr12:19152118..19537258hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38385141
hg19385141
hg18385141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041486
Supporting Variants
Samples
Known GenesAEBP2, PLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3513088
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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