A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518595



Internal ID294977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31553145..31626891hg38UCSC Ensembl
chr16:31564466..31638212hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3873747
hg1973747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707305
Samples
Known GenesYBX3P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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