A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544542



Internal ID318677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49468614..49468614hg38UCSC Ensembl
chr13:50042750..50042750hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687640
Samples
Known GenesSETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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