A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850735



Internal ID22034378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33462325..33462325hg38UCSC Ensembl
chr21:34834632..34834632hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251858
Supporting Variants
Samples
Known GenesTMEM50B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850735
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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