A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983810



Internal ID18619002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31109921..31113375hg38UCSC Ensembl
Innerchr14:31579127..31582581hg19UCSC Ensembl
Innerchr14:30648878..30652332hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1982964, nssv1982968, nssv1982972, nssv1982967, nssv1982963, nssv1982969, nssv1982970, nssv1982971, nssv1982965, nssv1982966
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHECTD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983810
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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