A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945406



Internal ID18592257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241828813..241833118hg38UCSC Ensembl
Innerchr1:241992115..241996420hg19UCSC Ensembl
Innerchr1:240058738..240063043hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384306
hg194306
hg184306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1826114, nssv1826115, nssv1826117, nssv1826118, nssv1826111, nssv1826116, nssv1826120, nssv1826112, nssv1826113, nssv1826119
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)nsv945406
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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