A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2520907



Internal ID17784573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143713811..143724019hg38UCSC Ensembl
Innerchr8:144795981..144806189hg19UCSC Ensembl
Innerchr8:144867969..144878177hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810209
hg1910209
hg1810209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967635
Supporting Variants
SamplesHGDP00665
Known GenesFAM83H, MAPK15
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)nssv2520907
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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