A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967589



Internal ID18256131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51818471..51822585hg38UCSC Ensembl
Innerchr8:52731031..52735145hg19UCSC Ensembl
Innerchr8:52893584..52897698hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384115
hg194115
hg184115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504689, nssv2504684, nssv2504685, nssv2504682, nssv2504688, nssv2504687, nssv2504686, nssv2504683, nssv2504681, nssv2504680
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCMTD1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967589
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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