A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449339



Internal ID22507209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2176677..2177677hg38UCSC Ensembl
chr9:2176677..2177677hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911880
Supporting Variants
Samples
Known GenesSMARCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449339
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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