A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241055



Internal ID22045665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55996004..55996004hg38UCSC Ensembl
chr12:56389788..56389788hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844290
Samples
Known GenesRAB5B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241055
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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