A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2502745



Internal ID17739255
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 StatusS
Merged Variantsnsv981932
Supporting Variants
SamplesHGDP00456
Known GenesPOTEA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2502745
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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