A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248390



Internal ID22053000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84881448..84881448hg38UCSC Ensembl
chr12:85275227..85275227hg19UCSC Ensembl
Cytoband12q21.31
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 Variantsnssv17846135
Samples
Known GenesSLC6A15
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248390
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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