A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966993



Internal ID18602222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:17869660..17872445hg38UCSC Ensembl
Innerchr3:17911152..17913937hg19UCSC Ensembl
Innerchr3:17886156..17888941hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382786
hg192786
hg182786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2275853, nssv2275851, nssv2275856, nssv2275849, nssv2275858, nssv2275854, nssv2275850, nssv2275855, nssv2275857, nssv2275852
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)nsv966993
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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