A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832219



Internal ID22607154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223830459..223842426hg38UCSC Ensembl
chr2:224695176..224707143hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3811968
hg1911968
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17482700
Samples
Known GenesAP1S3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832219
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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