A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019354



Internal ID80537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2186333..2187279hg38UCSC Ensembl
chr9:2186333..2187279hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487853
Supporting Variants
Samples
Known GenesSMARCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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