A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983816



Internal ID18619008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38725921..38728169hg38UCSC Ensembl
Innerchr14:39195125..39197373hg19UCSC Ensembl
Innerchr14:38264876..38267124hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382249
hg192249
hg182249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1983150, nssv1983147, nssv1983152, nssv1983153, nssv1983156, nssv1983151, nssv1983155, nssv1983154, nssv1983148, nssv1983149
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)nsv983816
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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