A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274401



Internal ID22326792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86024349..86076090hg38UCSC Ensembl
Outerchr4:86945502..86997243hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3851742
hg1951742
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207292
Supporting Variants
SamplesNA19240
Known GenesMAPK10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274401
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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