A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716175



Internal ID139841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7679355..7679406hg38UCSC Ensembl
chr18:7679353..7679404hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561713
Supporting Variants
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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