A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967588



Internal ID18602816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49738236..49740841hg38UCSC Ensembl
Innerchr8:50650796..50653401hg19UCSC Ensembl
Innerchr8:50813349..50815954hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382606
hg192606
hg182606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503699, nssv2503698, nssv2503694, nssv2503697, nssv2503701, nssv2503700, nssv2503695, nssv2503703, nssv2503696, nssv2503702
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)nsv967588
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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