A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222277



Internal ID22366399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112441501..112449950hg38UCSC Ensembl
chr13:113095815..113104264hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388450
hg198450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2463n152
Supporting Variantsnssv14401826, nssv14429278
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222277
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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