A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716179



Internal ID139845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7725583..7725634hg38UCSC Ensembl
chr18:7725581..7725632hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425097
Supporting Variants
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03247


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