A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268626



Internal ID22279691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157268691..157307640hg38UCSC Ensembl
Outerchr1:157238481..157277430hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210628
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268626
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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