A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195817



Internal ID22345933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:164127169..164135570hg38UCSC Ensembl
Outerchr4:165048321..165056722hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg388402
hg198402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273731
SamplesNA19238
Known GenesMARCH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195817
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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