A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275030



Internal ID22153379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59419134..59442424hg38UCSC Ensembl
Outerchr4:60284852..60308142hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3823291
hg1923291
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192954
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275030
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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