A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960149



Internal ID18595402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80462211..80465226hg38UCSC Ensembl
Innerchr17:78436011..78439026hg19UCSC Ensembl
Innerchr17:76050606..76053621hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383016
hg193016
hg183016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2111957, nssv2111958, nssv2111952, nssv2111953, nssv2111956, nssv2111960, nssv2111959, nssv2111961, nssv2111955, nssv2111954
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)nsv960149
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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