A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974330



Internal ID18609541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39934908..39938843hg38UCSC Ensembl
Innerchr14:40404112..40408047hg19UCSC Ensembl
Innerchr14:39473863..39477798hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg383936
hg193936
hg183936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985741, nssv1985739, nssv1985746, nssv1985744, nssv1985740, nssv1985748, nssv1985745, nssv1985747, nssv1985742, nssv1985743
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)nsv974330
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer