A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529748



Internal ID305756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7729262..7761532hg38UCSC Ensembl
chr18:7729260..7761530hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3832271
hg1932271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716180
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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