A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243354



Internal ID22047964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161976614..161976614hg38UCSC Ensembl
chr2:162833124..162833124hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852621
Samples
Known GenesSLC4A10
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243354
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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