A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974321



Internal ID18609532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31744399..31758504hg38UCSC Ensembl
Innerchr14:32213605..32227710hg19UCSC Ensembl
Innerchr14:31283356..31297461hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3814106
hg1914106
hg1814106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1981791, nssv1981788, nssv1981787, nssv1981786, nssv1981792, nssv1981785, nssv1981794, nssv1981790, nssv1981789, nssv1981793
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUBPL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974321
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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