A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240652



Internal ID22045262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9985922..9985922hg38UCSC Ensembl
chr12:10138521..10138521hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843568
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240652
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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