A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976114



Internal ID18264635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50361311..50366028hg38UCSC Ensembl
Innerchr13:50935447..50940164hg19UCSC Ensembl
Innerchr13:49833448..49838165hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg384718
hg194718
hg184718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963965, nssv1963972, nssv1963967, nssv1963970, nssv1963969, nssv1963973, nssv1963968, nssv1963971, nssv1963966, nssv1963974
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976114
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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