A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273852



Internal ID22294309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:646075..662096hg38UCSC Ensembl
Outerchr4:639864..655885hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3816022
hg1916022
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204265
Supporting Variants
SamplesNA19240
Known GenesPDE6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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