A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968216



Internal ID18603444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82275992..82276492hg38UCSC Ensembl
Innerchr5:81571811..81572311hg19UCSC Ensembl
Innerchr5:81607567..81608067hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367483, nssv2367485, nssv2367491, nssv2367492, nssv2367484, nssv2367488, nssv2367489, nssv2367486, nssv2367490, nssv2367487
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS23
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968216
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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