A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270899



Internal ID22225536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197163037..197232388hg38UCSC Ensembl
Outerchr3:196889908..196959259hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3869352
hg1969352
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195983
Supporting Variants
SamplesHG00733
Known GenesDLG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270899
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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