A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550381



Internal ID323941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116222632..116222632hg38UCSC Ensembl
chr9:118984911..118984911hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028404
Samples
Known GenesPAPPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550381
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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