A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2506251



Internal ID17876375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:64762487..64768420hg38UCSC Ensembl
Innerchr8:65675044..65680977hg19UCSC Ensembl
Innerchr8:65837598..65843531hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg385934
hg195934
hg185934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981948
Supporting Variants
SamplesHGDP01307
Known GenesCYP7B1
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)nssv2506251
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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