A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240957



Internal ID22045567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42869875..42869875hg38UCSC Ensembl
chr12:43263678..43263678hg19UCSC Ensembl
Cytoband12q12
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 Variantsnssv17843218
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240957
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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