A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848533



Internal ID22032176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50483192..50483192hg38UCSC Ensembl
chr17:48560553..48560553hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250846
Supporting Variants
Samples
Known GenesRSAD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848533
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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