A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207241



Internal ID22355667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166073479..166096463hg38UCSC Ensembl
Outerchr6:166486967..166509951hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3822985
hg1922985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276025, nssv14276026
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207241
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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