A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258173



Internal ID22192056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236354020..236394679hg38UCSC Ensembl
Outerchr1:236517320..236557979hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3840660
hg1940660
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192807
Supporting Variants
SamplesHG00731
Known GenesEDARADD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258173
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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