A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411484



Internal ID22469354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68223003..68223179hg38UCSC Ensembl
chr5:67518831..67519007hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890184
Supporting Variants
Samples
Known GenesPIK3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411484
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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