A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974336



Internal ID18609547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50662994..50665409hg38UCSC Ensembl
Innerchr14:51129712..51132127hg19UCSC Ensembl
Innerchr14:50199462..50201877hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985506, nssv1985510, nssv1985504, nssv1985509, nssv1985512, nssv1985508, nssv1985511, nssv1985513, nssv1985507, nssv1985505
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSAV1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974336
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