A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980749



Internal ID18615949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165904086..165906909hg38UCSC Ensembl
Innerchr5:165331091..165333914hg19UCSC Ensembl
Innerchr5:165263669..165266492hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382824
hg192824
hg182824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383488, nssv2383491, nssv2383490, nssv2383487, nssv2383484, nssv2383485, nssv2383492, nssv2383489, nssv2383486, nssv2383493
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)nsv980749
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