A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2517761



Internal ID17776005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119455026..119483116hg38UCSC Ensembl
Innerchr8:120467266..120495356hg19UCSC Ensembl
Innerchr8:120536447..120564537hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3828091
hg1928091
hg1828091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981977
Supporting Variants
SamplesHGDP00542
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)nssv2517761
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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