A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272420



Internal ID22132551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44774769..44775580hg38UCSC Ensembl
Outerchr1:45240441..45241252hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813680
hg1913680
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228745
Supporting Variants
SamplesHG00513
Known GenesRPS8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272420
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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