A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972076



Internal ID18607292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118391921..118392830hg38UCSC Ensembl
Innerchr11:118262636..118263545hg19UCSC Ensembl
Innerchr11:117767846..117768755hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1905891, nssv1905888, nssv1905886, nssv1905887, nssv1905885, nssv1905892, nssv1905884, nssv1905890, nssv1905889, nssv1905883
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100131626, UBE4A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972076
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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