A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019346



Internal ID80532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2176353..2178744hg38UCSC Ensembl
chr9:2176353..2178744hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg382392
hg192392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475567
Supporting Variants
Samples
Known GenesSMARCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019346
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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