A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960126



Internal ID18248693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59576498..59579972hg38UCSC Ensembl
Innerchr17:57653859..57657333hg19UCSC Ensembl
Innerchr17:55008641..55012115hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg383475
hg193475
hg183475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103855, nssv2103850, nssv2103849, nssv2103856, nssv2103852, nssv2103853, nssv2103854, nssv2103857, nssv2103848, nssv2103851
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDHX40
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960126
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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