A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980608



Internal ID18615808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13637033..13639841hg38UCSC Ensembl
Innerchr5:13637142..13639950hg19UCSC Ensembl
Innerchr5:13690142..13692950hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382809
hg192809
hg182809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2347037, nssv2347042, nssv2347045, nssv2347043, nssv2347040, nssv2347036, nssv2347044, nssv2347039, nssv2347041, nssv2347038
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)nsv980608
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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