A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253136



Internal ID22057746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190887040..190887040hg38UCSC Ensembl
chr2:191751766..191751766hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853155
Samples
Known GenesGLS
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253136
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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