A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272833



Internal ID22198006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46471423..46508823hg38UCSC Ensembl
Outerchr4:46473440..46510840hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3837401
hg1937401
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204204
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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