A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2518525



Internal ID17770300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125188048..125189584hg38UCSC Ensembl
Innerchr8:126200290..126201826hg19UCSC Ensembl
Innerchr8:126269472..126271008hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981979
Supporting Variants
SamplesHGDP00542
Known GenesNSMCE2
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)nssv2518525
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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