A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196036



Internal ID22346121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139272627..139288812hg38UCSC Ensembl
Outerchr4:140193781..140209966hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3816186
hg1916186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273052, nssv14273054, nssv14273053
SamplesNA19238, HG00513, HG00514
Known GenesMGARP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196036
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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