A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264701



Internal ID22268298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:187491103..187536407hg38UCSC Ensembl
Outerchr1:187460235..187505539hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384157
hg194157
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227917
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264701
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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