A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252926



Internal ID22057536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123071468..123071468hg38UCSC Ensembl
chr2:123829044..123829044hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850937
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252926
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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