A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716250



Internal ID139916
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 StatusS
Merged Variantsnsv5524447
Supporting Variants
Samples
Known GenesMPPE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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