A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968986



Internal ID18604214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132065133..132068121hg38UCSC Ensembl
Innerchr5:131400826..131403814hg19UCSC Ensembl
Innerchr5:131428725..131431713hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382989
hg192989
hg182989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375838, nssv2375841, nssv2375839, nssv2375832, nssv2375836, nssv2375834, nssv2375833, nssv2375837, nssv2375835, nssv2375840
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)nsv968986
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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