A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242110



Internal ID22046720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10410461..10410461hg38UCSC Ensembl
chr2:10550587..10550587hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848627
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242110
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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