A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361262



Internal ID22586931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169470311..169471847hg38UCSC Ensembl
chr1:169439549..169441085hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381537
hg191537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883921
Supporting Variants
Samples
Known GenesSLC19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361262
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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