A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960129



Internal ID18595382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59925415..59950977hg38UCSC Ensembl
Innerchr17:58002776..58028338hg19UCSC Ensembl
Innerchr17:55357558..55383120hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3825563
hg1925563
hg1825563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2104094, nssv2104088, nssv2104092, nssv2104089, nssv2104096, nssv2104091, nssv2104095, nssv2104090, nssv2104097, nssv2104093
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS6KB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960129
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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