A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843908



Internal ID22027551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50984624..50984624hg38UCSC Ensembl
chr12:51378407..51378407hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241033
Supporting Variants
Samples
Known GenesSLC11A2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843908
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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