A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147610



Internal ID21504162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68262864..68262864hg38UCSC Ensembl
chr5:67558692..67558692hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5636390
Supporting Variants
SamplesNA19239
Known GenesPIK3R1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147610
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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