A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198524



Internal ID22348233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112003104..112073480hg38UCSC Ensembl
Outerchr4:112924260..112994636hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3870377
hg1970377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272809
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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