A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507310



Internal ID284034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78392720..78396778hg38UCSC Ensembl
chr13:78966855..78970913hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg384059
hg194059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693261
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507310
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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