A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724711



Internal ID148377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50483189..50483193hg38UCSC Ensembl
chr17:48560550..48560554hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551816
Supporting Variants
Samples
Known GenesRSAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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