A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1117437



Internal ID15623937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86094481..86124091hg38UCSC Ensembl
Innerchr8:87106710..87136320hg19UCSC Ensembl
Innerchr8:87175826..87205436hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3829611
hg1929611
hg1829611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611673
Supporting Variants
Samples
Known GenesATP6V0D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1117437
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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