A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968177



Internal ID18603405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58822153..58824579hg38UCSC Ensembl
Innerchr5:58117980..58120406hg19UCSC Ensembl
Innerchr5:58153737..58156163hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2357268, nssv2357266, nssv2357264, nssv2357270, nssv2357267, nssv2357265, nssv2357272, nssv2357269, nssv2357271, nssv2357263
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968177
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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