A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148956



Internal ID15873658
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 StatusS
Merged Variantsnsv565181
Supporting Variants
SamplesHGDP00286
Known GenesCOQ6, ENTPD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148956
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer