A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254491



Internal ID22270988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145287313..145407875hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38120563
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190541
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254491
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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