A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2490341



Internal ID17745805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60001..67190hg38UCSC Ensembl
Innerchr8:10001..17190hg19UCSC Ensembl
Innerchr8:1..7190hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg387190
hg197190
hg187190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981895
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)nssv2490341
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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