A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269183



Internal ID22306352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165176359..165186443hg38UCSC Ensembl
Outerchr1:165145596..165155680hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg385644
hg195644
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225019
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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