A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980744



Internal ID18269258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150446212..150447914hg38UCSC Ensembl
Innerchr5:149825775..149827477hg19UCSC Ensembl
Innerchr5:149805968..149807670hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381703
hg191703
hg181703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383896, nssv2383897, nssv2383903, nssv2383901, nssv2383899, nssv2383900, nssv2383898, nssv2383894, nssv2383902, nssv2383895
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980744
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