A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550716



Internal ID324239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115880505..115880571hg38UCSC Ensembl
chr5:115216202..115216268hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973721
Samples
Known GenesAP3S1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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