A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191687



Internal ID22342359
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275084, nssv14275083, nssv14275082, nssv14275081
SamplesHG00731, HG00732, HG00733, HG00513
Known GenesSLIT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191687
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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