A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980735



Internal ID18615935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141096667..141097493hg38UCSC Ensembl
Innerchr5:140476251..140477077hg19UCSC Ensembl
Innerchr5:140456435..140457261hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38827
hg19827
hg18827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380724, nssv2380730, nssv2380725, nssv2380729, nssv2380732, nssv2380733, nssv2380731, nssv2380727, nssv2380728, nssv2380726
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980735
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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