A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196291



Internal ID22346330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46045921..46070120hg38UCSC Ensembl
Outerchr4:46047938..46072137hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3824200
hg1924200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274374, nssv14274376, nssv14274377, nssv14274378, nssv14274373, nssv14274375
SamplesNA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesGABRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196291
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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