A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271896



Internal ID22330249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59070942..59105035hg38UCSC Ensembl
Outerchr4:59936660..59970753hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3834094
hg1934094
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201794
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271896
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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