A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248521



Internal ID22053131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102198887..102198887hg38UCSC Ensembl
chr12:102592665..102592665hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844431
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248521
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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