A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983065



Internal ID18271573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117205850..117209081hg38UCSC Ensembl
Innerchr11:117076566..117079797hg19UCSC Ensembl
Innerchr11:116581776..116585007hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383232
hg193232
hg183232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1905454, nssv1905459, nssv1905456, nssv1905455, nssv1905453, nssv1905457, nssv1905458, nssv1905461, nssv1905460, nssv1905452
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCSK7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983065
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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