A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967043



Internal ID18602272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100225459..100226111hg38UCSC Ensembl
Innerchr3:99944303..99944955hg19UCSC Ensembl
Innerchr3:101426993..101427645hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38653
hg19653
hg18653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2287469, nssv2287468, nssv2287462, nssv2287467, nssv2287465, nssv2287463, nssv2287464, nssv2287466, nssv2287461, nssv2287470
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)nsv967043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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