A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221275



Internal ID22365714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:60707454..60753738hg38UCSC Ensembl
Outerchr13:61281588..61327872hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3846285
hg1946285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256890, nssv14256891, nssv14256892, nssv14256889
SamplesHG00512, NA19239, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221275
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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