A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046018



Internal ID18788549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97599906..97815845hg38UCSC Ensembl
Innerchr12:97993684..98209623hg19UCSC Ensembl
Innerchr12:96517815..96733754hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38215940
hg19215940
hg18215940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1547n100
Supporting Variantsnssv3524835
Samples
Known GenesLOC643711
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046018
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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