A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275081



Internal ID22136393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:20401495..20417706hg38UCSC Ensembl
Outerchr4:20403118..20419329hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3816212
hg1916212
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191687
Supporting Variants
SamplesHG00513
Known GenesSLIT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275081
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