A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609555



Internal ID16396964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1955991..1964968hg38UCSC Ensembl
Innerchr8:1904157..1913134hg19UCSC Ensembl
Innerchr8:1891564..1900541hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg388978
hg198978
hg188978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155949
SamplesHGDP00830
Known GenesARHGEF10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609555
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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