A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398670



Internal ID22456540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231350797..231353048hg38UCSC Ensembl
chr2:232215509..232217760hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895167
Supporting Variants
Samples
Known GenesARMC9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398670
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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