A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253446



Internal ID22058056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223769619..223769619hg38UCSC Ensembl
chr2:224634336..224634336hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853223
Samples
Known GenesAP1S3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253446
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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