A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148915



Internal ID15528657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6455963..6706688hg38UCSC Ensembl
Innerchr16:6505964..6756689hg19UCSC Ensembl
Innerchr16:6445965..6696690hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38250726
hg19250726
hg18250726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571326
Supporting Variants
SamplesHGDP00672
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148915
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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