A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240645



Internal ID22045255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9114660..9114660hg38UCSC Ensembl
chr12:9267256..9267256hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843561
Samples
Known GenesA2M
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240645
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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