A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976358



Internal ID18264878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80820953..80825707hg38UCSC Ensembl
Innerchr14:81287297..81292051hg19UCSC Ensembl
Innerchr14:80357050..80361804hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg384755
hg194755
hg184755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1992661, nssv1992653, nssv1992654, nssv1992655, nssv1992659, nssv1992660, nssv1992658, nssv1992657, nssv1992656, nssv1992652
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEP128
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976358
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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