A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207231



Internal ID22355657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:46759861..46779948hg38UCSC Ensembl
Outerchr6:46727598..46747685hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3820088
hg1920088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274817
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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