A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253288



Internal ID22057898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206877546..206877546hg38UCSC Ensembl
chr2:207742270..207742270hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851116
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253288
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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