A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513732



Internal ID17875067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97851578..97854136hg38UCSC Ensembl
Innerchr8:98863806..98866364hg19UCSC Ensembl
Innerchr8:98932982..98935540hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382559
hg192559
hg182559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971688
Supporting Variants
SamplesHGDP01284
Known GenesLAPTM4B
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)nssv2513732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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