A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266021



Internal ID22208006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236087553..236117688hg38UCSC Ensembl
Outerchr1:236250853..236280988hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg387904
hg197904
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215555
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266021
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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