A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612947



Internal ID16053670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144464532..144467429hg38UCSC Ensembl
Innerchr8:145689915..145692812hg19UCSC Ensembl
Innerchr8:145660723..145663620hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382898
hg192898
hg182898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125806
Samples
Known GenesCYHR1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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