A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272287



Internal ID22262421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1519170..1549845hg38UCSC Ensembl
Outerchr4:1520897..1551572hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3830676
hg1930676
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190581
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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