A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198894



Internal ID22348562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182628207..182641130hg38UCSC Ensembl
Outerchr4:183549360..183562283hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3812924
hg1912924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272759
SamplesHG00513
Known GenesTENM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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