A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507345



Internal ID284067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40924609..40941217hg38UCSC Ensembl
chr13:41498745..41515353hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3816609
hg1916609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687123
Samples
Known GenesELF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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