A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203157



Internal ID22352219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:58645696..58714718hg38UCSC Ensembl
Outerchr4:59511861..59580883hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3869023
hg1969023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272798
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203157
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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