A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974359



Internal ID18609570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83587543..83589248hg38UCSC Ensembl
Innerchr14:84053887..84055592hg19UCSC Ensembl
Innerchr14:83123640..83125345hg18UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg381706
hg191706
hg181706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1994571, nssv1994574, nssv1994578, nssv1994573, nssv1994580, nssv1994575, nssv1994577, nssv1994579, nssv1994572, nssv1994576
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)nsv974359
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