A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201794



Internal ID22351046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59070942..59105035hg38UCSC Ensembl
Outerchr4:59936660..59970753hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3834094
hg1934094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271895, nssv14271891, nssv14271892, nssv14271893, nssv14271894, nssv14271896, nssv14271890
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201794
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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