A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277274



Internal ID22154186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170632773..170676919hg38UCSC Ensembl
Outerchr6:170941861..170986007hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3844147
hg1944147
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192024
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277274
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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