A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513222



Internal ID289753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50921702..50921775hg38UCSC Ensembl
chr13:51495838..51495911hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687723
Samples
Known GenesRNASEH2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513222
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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