A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980722



Internal ID18615922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127510551..127512914hg38UCSC Ensembl
Innerchr5:126846243..126848606hg19UCSC Ensembl
Innerchr5:126874142..126876505hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382364
hg192364
hg182364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376688, nssv2376682, nssv2376687, nssv2376681, nssv2376689, nssv2376683, nssv2376686, nssv2376685, nssv2376680, nssv2376684
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)nsv980722
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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