A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv68n82



Internal ID22782902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181339968..181351190hg38UCSC Ensembl
chr5:180766969..180778191hg19UCSC Ensembl
chr5:180699575..180710797hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811223
hg1911223
hg1811223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv968352, nsv964994
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv68n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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