A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981930



Internal ID18617126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39859598..39860431hg38UCSC Ensembl
Innerchr8:39717117..39717950hg19UCSC Ensembl
Innerchr8:39836274..39837107hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38834
hg19834
hg18834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2499759, nssv2499756, nssv2499762, nssv2499757, nssv2499753, nssv2499761, nssv2499754, nssv2499758, nssv2499755, nssv2499760
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)nsv981930
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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