A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612693



Internal ID16400102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142281676..142322332hg38UCSC Ensembl
Innerchr8:143363037..143403693hg19UCSC Ensembl
Innerchr8:143360944..143401600hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840657
hg1940657
hg1840657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12393n54
Supporting Variantsnssv1156650
SamplesHGDP00438
Known GenesTSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612693
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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