A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214867



Internal ID22361384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1559566..1584205hg38UCSC Ensembl
Outerchr8:1507732..1532371hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3824640
hg1924640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280174, nssv14280175, nssv14280178, nssv14280177, nssv14280176
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesDLGAP2, LOC100507435
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214867
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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