A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612694



Internal ID16400103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142281676..142327424hg38UCSC Ensembl
Innerchr8:143363037..143408785hg19UCSC Ensembl
Innerchr8:143360944..143406692hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3845749
hg1945749
hg1845749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12393n54
Supporting Variantsnssv1156651
SamplesHGDP00841
Known GenesTSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612694
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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