A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272835



Internal ID22215303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49069898..49161472hg38UCSC Ensembl
Outerchr4:49071915..49163489hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3891575
hg1991575
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200062
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272835
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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