A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565647



Internal ID16006370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96219367..96222332hg38UCSC Ensembl
Innerchr14:96685704..96688669hg19UCSC Ensembl
Innerchr14:95755457..95758422hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382966
hg192966
hg182966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148967, nssv1148968
SamplesHGDP00930, HGDP00694
Known GenesBDKRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565647
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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