A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968271



Internal ID18256813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172996009..172997277hg38UCSC Ensembl
Innerchr5:172423012..172424280hg19UCSC Ensembl
Innerchr5:172355618..172356886hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381269
hg191269
hg181269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386041, nssv2386040, nssv2386042, nssv2386033, nssv2386038, nssv2386037, nssv2386034, nssv2386035, nssv2386036, nssv2386039
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATP6V0E1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968271
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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