A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1124287



Internal ID15977473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140448395..140524099hg38UCSC Ensembl
Innerchr8:141458494..141534198hg19UCSC Ensembl
Innerchr8:141527676..141603380hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3875705
hg1975705
hg1875705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612567
Supporting Variants
Samples
Known GenesCHRAC1, TRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1124287
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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