A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503151



Internal ID279992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113871335..114124231hg38UCSC Ensembl
chr13:114574308..114889706hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38252897
hg19315399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695610
Samples
Known GenesLINC00452, LINC00565, RASA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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