A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962267



Internal ID18597511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16607916..16617365hg38UCSC Ensembl
Innerchr17:16511230..16520679hg19UCSC Ensembl
Innerchr17:16451955..16461404hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389450
hg199450
hg189450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2080223, nssv2080215, nssv2080217, nssv2080219, nssv2080218, nssv2080221, nssv2080222, nssv2080220, nssv2080214, nssv2080216
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)nsv962267
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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