A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611220



Internal ID16398629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:45927486..45945032hg38UCSC Ensembl
Innerchr8:46839108..46856654hg19UCSC Ensembl
Innerchr8:46958273..46975819hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3817547
hg1917547
hg1817547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12138n54
Supporting Variantsnssv1114097, nssv1114096, nssv1114095, nssv1114098
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611220
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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