A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565181



Internal ID16352590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73953737..74016745hg38UCSC Ensembl
Innerchr14:74420440..74483448hg19UCSC Ensembl
Innerchr14:73490193..73553201hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3863009
hg1963009
hg1863009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148956
SamplesHGDP00286
Known GenesCOQ6, ENTPD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565181
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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