A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960454



Internal ID18249019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28258734..28273096hg38UCSC Ensembl
Innerchr17:26585760..26600122hg19UCSC Ensembl
Innerchr17:23609887..23624249hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814363
hg1914363
hg1814363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2088370, nssv2088369, nssv2088365, nssv2088368, nssv2088367, nssv2088373, nssv2088366, nssv2088364, nssv2088372, nssv2088371
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960454
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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