A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975139



Internal ID18263661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2771026..2772376hg38UCSC Ensembl
Innerchr11:2792256..2793606hg19UCSC Ensembl
Innerchr11:2748832..2750182hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381351
hg191351
hg181351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1871686, nssv1871683, nssv1871688, nssv1871684, nssv1871682, nssv1871691, nssv1871690, nssv1871685, nssv1871689, nssv1871687
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKCNQ1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975139
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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