A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902080



Internal ID22677234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68257360..68257425hg38UCSC Ensembl
chr5:67553188..67553253hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428980
Samples
Known GenesPIK3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902080
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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