A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977460



Internal ID18612666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39215459..39220964hg38UCSC Ensembl
Innerchr14:39684663..39690168hg19UCSC Ensembl
Innerchr14:38754414..38759919hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1984243, nssv1984248, nssv1984245, nssv1984247, nssv1984246, nssv1984250, nssv1984241, nssv1984244, nssv1984249, nssv1984242
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)nsv977460
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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