A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221781



Internal ID22366050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12015513..12435833hg38UCSC Ensembl
Outerchr8:11873022..12293342hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38420321
hg19420321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281630, nssv14282186, nssv14282185
SamplesNA19240, HG00733, HG00514
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221781
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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