A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962274



Internal ID18597518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18312391..18313266hg38UCSC Ensembl
Innerchr17:18215705..18216580hg19UCSC Ensembl
Innerchr17:18156430..18157305hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2080930, nssv2080933, nssv2080937, nssv2080929, nssv2080934, nssv2080938, nssv2080936, nssv2080935, nssv2080932, nssv2080931
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTOP3A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962274
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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