A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273858



Internal ID22152962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1509839..1548190hg38UCSC Ensembl
Outerchr4:1511566..1549917hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3838352
hg1938352
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208091
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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