A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050054



Internal ID18792585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31032497..31264436hg38UCSC Ensembl
Innerchr14:31501703..31733642hg19UCSC Ensembl
Innerchr14:30571454..30803393hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38231940
hg19231940
hg18231940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528586
Samples
Known GenesAP4S1, HECTD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050054
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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