A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553998



Internal ID15994721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34620946..34748947hg38UCSC Ensembl
Innerchr11:34642493..34770494hg19UCSC Ensembl
Innerchr11:34599069..34727070hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38128002
hg19128002
hg18128002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1743n54
Supporting Variantsnssv771055
Samples
Known GenesEHF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553998
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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