A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272758



Internal ID22136671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:172404443..172465257hg38UCSC Ensembl
Outerchr4:173325594..173386408hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3860815
hg1960815
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193935
Supporting Variants
SamplesHG00513
Known GenesGALNTL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272758
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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