A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983058



Internal ID18618252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101472104..101472970hg38UCSC Ensembl
Innerchr11:101342835..101343701hg19UCSC Ensembl
Innerchr11:100848045..100848911hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38867
hg19867
hg18867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1902375, nssv1902370, nssv1902376, nssv1902373, nssv1902369, nssv1902374, nssv1902371, nssv1902372, nssv1902368, nssv1902367
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRPC6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983058
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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