A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271922



Internal ID22131371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44798391..44804172hg38UCSC Ensembl
Outerchr1:45264063..45269844hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3820693
hg1920693
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224159
Supporting Variants
SamplesHG00513
Known GenesPLK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271922
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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