A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408031



Internal ID187361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433460..55433460hg38UCSC Ensembl
chr5:54729288..54729288hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735370
Samples
Known GenesPPAP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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