A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980628



Internal ID18269142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31839218..31840888hg38UCSC Ensembl
Innerchr5:31839324..31840994hg19UCSC Ensembl
Innerchr5:31875081..31876751hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381671
hg191671
hg181671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352104, nssv2352101, nssv2352107, nssv2352098, nssv2352099, nssv2352100, nssv2352106, nssv2352105, nssv2352103, nssv2352102
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)nsv980628
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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