A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612288



Internal ID16399697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130357985..130358897hg38UCSC Ensembl
Innerchr8:131370231..131371143hg19UCSC Ensembl
Innerchr8:131439413..131440325hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38913
hg19913
hg18913
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12332n54
Supporting Variantsnssv1121324, nssv1121323
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612288
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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