A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967590



Internal ID18602818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54068074..54078942hg38UCSC Ensembl
Innerchr8:54980634..54991502hg19UCSC Ensembl
Innerchr8:55143187..55154055hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3810869
hg1910869
hg1810869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504059, nssv2504053, nssv2504054, nssv2504056, nssv2504052, nssv2504058, nssv2504057, nssv2504050, nssv2504051, nssv2504055
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLYPLA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967590
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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