A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611547



Internal ID16398956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74452293..74454540hg38UCSC Ensembl
Innerchr8:75364528..75366775hg19UCSC Ensembl
Innerchr8:75527083..75529330hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg382248
hg192248
hg182248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12202n54
Supporting Variantsnssv1116186, nssv1116189, nssv1116188, nssv1116190, nssv1116185, nssv1116187
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611547
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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