A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960657



Internal ID18595904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14142476..14357755hg38UCSC Ensembl
Innerchr18:14142475..14357754hg19UCSC Ensembl
Innerchr18:14132475..14347754hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38215280
hg19215280
hg18215280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2117041, nssv2117037, nssv2117038, nssv2117042, nssv2117033, nssv2117035, nssv2117040, nssv2117034, nssv2117039, nssv2117036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A5P, CYP4F35P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960657
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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