A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273030



Internal ID22262483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129122167..129173440hg38UCSC Ensembl
Outerchr4:130043322..130094595hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3851274
hg1951274
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205522
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273030
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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