A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980789



Internal ID18615989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50616062..50617999hg38UCSC Ensembl
Innerchr5:49911896..49913833hg19UCSC Ensembl
Innerchr5:49947653..49949590hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2697137, nssv2697136, nssv2697138, nssv2697135, nssv2697130, nssv2697131, nssv2697133, nssv2697134, nssv2697132, nssv2697129
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980789
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