A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201423



Internal ID22350735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182628207..182665675hg38UCSC Ensembl
Outerchr4:183549360..183586828hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3837469
hg1937469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275065, nssv14275066, nssv14275067
SamplesHG00512, HG00513, HG00514
Known GenesTENM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201423
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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