A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611222



Internal ID16398631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:45927486..45975113hg38UCSC Ensembl
Innerchr8:46839108..46886735hg19UCSC Ensembl
Innerchr8:46958273..47005900hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3847628
hg1947628
hg1847628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12140n54
Supporting Variantsnssv1114112, nssv1114111, nssv1114108, nssv1114110, nssv1114109
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611222
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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