A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501344



Internal ID278243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30042950..30045609hg38UCSC Ensembl
chr13:30617087..30619746hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686566
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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