A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280851



Internal ID22254514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6988109..8149448hg38UCSC Ensembl
Outerchr8:6845631..8006970hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381161340
hg191161340
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211022
Supporting Variants
SamplesNA19238
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280851
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer