A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5393983



Internal ID173420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17126989..17127040hg38UCSC Ensembl
chr11:17148536..17148587hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041531
Samples
Known GenesPIK3C2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5393983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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