A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963312



Internal ID18598553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:40586060..40588817hg38UCSC Ensembl
Innerchr3:40627551..40630308hg19UCSC Ensembl
Innerchr3:40602555..40605312hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382758
hg192758
hg182758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2276962, nssv2276964, nssv2276958, nssv2276963, nssv2276961, nssv2276965, nssv2276960, nssv2276966, nssv2276959, nssv2276957
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)nsv963312
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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