A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270417



Internal ID22275510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46736775..46812174hg38UCSC Ensembl
Outerchr3:46778265..46853664hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3875400
hg1975400
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201728
Supporting Variants
SamplesNA19239
Known GenesPRSS45
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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