A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968981



Internal ID18604209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:122674467..122677006hg38UCSC Ensembl
Innerchr5:122010162..122012701hg19UCSC Ensembl
Innerchr5:122038061..122040600hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382540
hg192540
hg182540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375298, nssv2375302, nssv2375305, nssv2375300, nssv2375304, nssv2375306, nssv2375299, nssv2375307, nssv2375303, nssv2375301
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)nsv968981
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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