A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513413



Internal ID17808729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94891038..94892910hg38UCSC Ensembl
Innerchr8:95903266..95905138hg19UCSC Ensembl
Innerchr8:95972442..95974314hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381873
hg191873
hg181873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971685
Supporting Variants
SamplesHGDP00778
Known GenesCCNE2
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)nssv2513413
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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