A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497858



Internal ID274876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42854284..42942470hg38UCSC Ensembl
chr13:43428420..43516606hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3888187
hg1988187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687244
Samples
Known GenesEPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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