A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14088248



Internal ID21286394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12141607..12698510hg38UCSC Ensembl
Innerchr8:11999116..12556019hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38556904
hg19556904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114448
Supporting Variants
Samplessample387
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14088248
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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