A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391453



Internal ID22449323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160233hg38UCSC Ensembl
chr2:166014693..166016743hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906754
Supporting Variants
Samples
Known GenesSCN3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391453
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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