A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445547



Internal ID223894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223815989..223831979hg38UCSC Ensembl
chr2:224680706..224696696hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3815991
hg1915991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926140
Samples
Known GenesAP1S3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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