A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265253



Internal ID22234437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:163780966..163793522hg38UCSC Ensembl
Outerchr2:164637476..164650032hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3812557
hg1912557
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203289
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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