A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054494



Internal ID19143713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43348906..43721657hg38UCSC Ensembl
Innerchr14:43818109..44190860hg19UCSC Ensembl
Innerchr14:42887859..43260610hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38372752
hg19372752
hg18372752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1890n100
Supporting Variantsnssv3530228
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054494
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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