A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2518428



Internal ID17776728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124897241..124913429hg38UCSC Ensembl
Innerchr8:125909483..125925671hg19UCSC Ensembl
Innerchr8:125978664..125994852hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3816189
hg1916189
hg1816189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971701
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)nssv2518428
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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