A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980603



Internal ID18269117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:272136..295286hg38UCSC Ensembl
Innerchr5:272251..295401hg19UCSC Ensembl
Innerchr5:325251..348401hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3823151
hg1923151
hg1823151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2345194, nssv2345193, nssv2345199, nssv2345195, nssv2345190, nssv2345196, nssv2345192, nssv2345191, nssv2345198, nssv2345197
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDCD6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980603
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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