A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1120117



Internal ID15626617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117926855..118456370hg38UCSC Ensembl
Innerchr8:118939094..119468609hg19UCSC Ensembl
Innerchr8:119008275..119537790hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38529516
hg19529516
hg18529516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612047
Supporting Variants
Samples
Known GenesEXT1, SAMD12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1120117
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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