A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242915



Internal ID22047525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37649044..37649044hg38UCSC Ensembl
chr2:37876187..37876187hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850336
Samples
Known GenesCDC42EP3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242915
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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