A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251584



Internal ID22056194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43070089..43070089hg38UCSC Ensembl
chr2:43297227..43297227hg19UCSC Ensembl
Cytoband2p21
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 Variantsnssv17851152
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251584
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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