A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275315



Internal ID22300011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38198870..38219451hg38UCSC Ensembl
Outerchr5:38198972..38219553hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381205
hg191205
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213746
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275315
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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