A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265885



Internal ID22121038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:219954857..219973354hg38UCSC Ensembl
Outerchr1:220128199..220146696hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229369
Supporting Variants
SamplesHG00512
Known GenesEPRS, RNU5F-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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