A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612950



Internal ID16053673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144466554..144474259hg38UCSC Ensembl
Innerchr8:145691937..145699642hg19UCSC Ensembl
Innerchr8:145662745..145670450hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387706
hg197706
hg187706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12440n54
Supporting Variantsnssv1125809
Samples
Known GenesFOXH1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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