A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968290



Internal ID18603518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181461494..181465154hg38UCSC Ensembl
Innerchr5:180888495..180892155hg19UCSC Ensembl
Innerchr5:180821101..180824761hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383661
hg193661
hg183661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2392627, nssv2392626, nssv2392619, nssv2392623, nssv2392621, nssv2392620, nssv2392622, nssv2392624, nssv2392628, nssv2392625
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968290
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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