A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243185



Internal ID22047795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143958908..143958908hg38UCSC Ensembl
chr2:144716475..144716475hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852347
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243185
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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