A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962299



Internal ID18250857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27769742..27772429hg38UCSC Ensembl
Innerchr17:26096768..26099455hg19UCSC Ensembl
Innerchr17:23120895..23123582hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg382688
hg192688
hg182688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2087643, nssv2087645, nssv2087649, nssv2087648, nssv2087646, nssv2087650, nssv2087642, nssv2087647, nssv2087644, nssv2087651
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNOS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962299
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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