A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524447



Internal ID300653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11905082..11906704hg38UCSC Ensembl
chr18:11905081..11906703hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716250
Samples
Known GenesMPPE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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