A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980747



Internal ID18615947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157604720..157608727hg38UCSC Ensembl
Innerchr5:157031728..157035735hg19UCSC Ensembl
Innerchr5:156964306..156968313hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384008
hg194008
hg184008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2384531, nssv2384528, nssv2384527, nssv2384526, nssv2384530, nssv2384524, nssv2384525, nssv2384529, nssv2384533, nssv2384532
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)nsv980747
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