A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051583



Internal ID19140802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73953737..73995987hg38UCSC Ensembl
Innerchr14:74420440..74462690hg19UCSC Ensembl
Innerchr14:73490193..73532443hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3842251
hg1942251
hg1842251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531157
Samples
Known GenesCOQ6, ENTPD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051583
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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