A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850737



Internal ID22034380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34087956..34087956hg38UCSC Ensembl
chr21:35460255..35460255hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251861
Supporting Variants
Samples
Known GenesMRPS6, SLC5A3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850737
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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