A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274509



Internal ID22310386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131555205..131589614hg38UCSC Ensembl
Outerchr4:132476360..132510769hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3834410
hg1934410
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203907
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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