A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196982



Internal ID22346911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:75664115..75677352hg38UCSC Ensembl
Outerchr4:76589299..76602536hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3813238
hg1913238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272916, nssv14272915, nssv14272914
SamplesNA19238, HG00513, HG00514
Known GenesG3BP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196982
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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