A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263429



Internal ID22254439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121050125..121082898hg38UCSC Ensembl
Outerchr1:149713483..149749770hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217538
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263429
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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