A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2503598



Internal ID17747425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:48384243..48385150hg38UCSC Ensembl
Innerchr8:49296803..49297710hg19UCSC Ensembl
Innerchr8:49459356..49460263hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981936
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2503598
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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