A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043311



Internal ID19132530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:32822077..32890653hg38UCSC Ensembl
Innerchr14:33291283..33359859hg19UCSC Ensembl
Innerchr14:32361034..32429610hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3868577
hg1968577
hg1868577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528590
Samples
Known GenesAKAP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043311
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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