A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968238



Internal ID18603466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123399131..123402307hg38UCSC Ensembl
Innerchr5:122734825..122738001hg19UCSC Ensembl
Innerchr5:122762724..122765900hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383177
hg193177
hg183177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374642, nssv2374638, nssv2374636, nssv2374637, nssv2373842, nssv2373843, nssv2374640, nssv2374639, nssv2373841, nssv2374641
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEP120
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968238
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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