A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964829



Internal ID18253379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31908620..31909484hg38UCSC Ensembl
Innerchr5:31908726..31909590hg19UCSC Ensembl
Innerchr5:31944483..31945347hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38865
hg19865
hg18865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2351519, nssv2351520, nssv2351515, nssv2351514, nssv2351512, nssv2351517, nssv2351513, nssv2351518, nssv2351511, nssv2351516
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPDZD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964829
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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