A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2496257



Internal ID17850017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12412192..12704558hg38UCSC Ensembl
Innerchr8:12269701..12562067hg19UCSC Ensembl
Innerchr8:12314072..12606438hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38292367
hg19292367
hg18292367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971288
Supporting Variants
SamplesHGDP01029
Known GenesFAM86B2, FAM90A25P, LOC100506990, LOC729732
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)nssv2496257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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