A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1117438



Internal ID15623938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86143943..86303691hg38UCSC Ensembl
Innerchr8:87156172..87315920hg19UCSC Ensembl
Innerchr8:87225288..87385036hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38159749
hg19159749
hg18159749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611674
Supporting Variants
Samples
Known GenesATP6V0D2, SLC7A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1117438
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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