A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983817



Internal ID18619009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39107847..39110131hg38UCSC Ensembl
Innerchr14:39577051..39579335hg19UCSC Ensembl
Innerchr14:38646802..38649086hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382285
hg192285
hg182285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1983261, nssv1983260, nssv1983255, nssv1983258, nssv1983264, nssv1983256, nssv1983262, nssv1983257, nssv1983259, nssv1983263
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)nsv983817
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