A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513636



Internal ID17743054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97786960..97791299hg38UCSC Ensembl
Innerchr8:98799188..98803527hg19UCSC Ensembl
Innerchr8:98868364..98872703hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg384340
hg194340
hg184340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971687
Supporting Variants
SamplesHGDP00456
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)nssv2513636
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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