A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563948



Internal ID336873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243669421..243671582hg38UCSC Ensembl
chr1:243832723..243834884hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382162
hg192162
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683850
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563948
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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