A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612946



Internal ID16053669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144463867..144469886hg38UCSC Ensembl
Innerchr8:145689250..145695269hg19UCSC Ensembl
Innerchr8:145660058..145666077hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386020
hg196020
hg186020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125805
Samples
Known GenesCYHR1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612946
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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