A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512073



Internal ID288640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67270358..67272044hg38UCSC Ensembl
chr13:67844490..67846176hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg381687
hg191687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691661
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512073
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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