A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968236



Internal ID18256778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116051367..116052264hg38UCSC Ensembl
Innerchr5:115387064..115387961hg19UCSC Ensembl
Innerchr5:115414963..115415860hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38898
hg19898
hg18898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375003, nssv2375000, nssv2375004, nssv2374999, nssv2375005, nssv2375006, nssv2375007, nssv2375001, nssv2375002, nssv2374998
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesARL14EPL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968236
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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