A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241042



Internal ID22045652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53428202..53428202hg38UCSC Ensembl
chr12:53821986..53821986hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843916
Samples
Known GenesAMHR2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241042
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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