A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981932



Internal ID18617128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43292470..43338145hg38UCSC Ensembl
Innerchr8:43147613..43193288hg19UCSC Ensembl
Innerchr8:43266770..43312445hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg3845676
hg1945676
hg1845676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2502742, nssv2502747, nssv2502743, nssv2502746, nssv2502748, nssv2502749, nssv2502740, nssv2502744, nssv2502745, nssv2502741
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOTEA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981932
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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