A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272854



Internal ID22198022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110373054..110390617hg38UCSC Ensembl
Outerchr4:111294210..111311773hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3817564
hg1917564
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201245
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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