A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545531



Internal ID319568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154047150..154047162hg38UCSC Ensembl
chr5:153426710..153426722hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975208
Samples
Known GenesMFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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