A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242265



Internal ID22046875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23805808..23805808hg38UCSC Ensembl
chr2:24028678..24028678hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847400
Samples
Known GenesATAD2B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242265
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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