A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977480



Internal ID18612686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67199267..67200192hg38UCSC Ensembl
Innerchr14:67665984..67666909hg19UCSC Ensembl
Innerchr14:66735737..66736662hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38926
hg19926
hg18926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1989799, nssv1989792, nssv1989798, nssv1989796, nssv1989800, nssv1989793, nssv1989794, nssv1989795, nssv1989797, nssv1989791
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM71D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977480
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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