A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243203



Internal ID22047813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145872534..145872534hg38UCSC Ensembl
chr2:146630102..146630102hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853130
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243203
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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