A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198518



Internal ID22348229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6647949..6690696hg38UCSC Ensembl
Outerchr4:6649676..6692423hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3842748
hg1942748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272299, nssv14272296, nssv14272297, nssv14272300, nssv14272298, nssv14272295
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesLOC93622
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198518
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