A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277285



Internal ID22154191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3275815..3287662hg38UCSC Ensembl
Outerchr6:3276049..3287896hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3811848
hg1911848
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191543
Supporting Variants
SamplesHG00514
Known GenesSLC22A23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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