A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977458



Internal ID18612664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35510697..35513076hg38UCSC Ensembl
Innerchr14:35979903..35982282hg19UCSC Ensembl
Innerchr14:35049654..35052033hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382380
hg192380
hg182380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985083, nssv1985087, nssv1985081, nssv1985082, nssv1985088, nssv1985085, nssv1985084, nssv1985086, nssv1985090, nssv1985089
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)nsv977458
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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