A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274364



Internal ID22278436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30144862..30168159hg38UCSC Ensembl
Outerchr4:30146484..30169781hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3823298
hg1923298
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195515
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274364
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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