A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271723



Internal ID22138217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:162783675..163053464hg38UCSC Ensembl
Outerchr3:162501463..162771252hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38269790
hg19269790
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201761
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271723
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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