A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497516



Internal ID274547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46009938..46010022hg38UCSC Ensembl
chr13:46584073..46584157hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687450
Samples
Known GenesZC3H13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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