A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512122



Internal ID288689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:103382195..103402912hg38UCSC Ensembl
chr13:104034545..104055262hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3820718
hg1920718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692273
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512122
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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