A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390182



Internal ID22448052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7679229..7682034hg38UCSC Ensembl
chr18:7679227..7682032hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg382806
hg192806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933413
Supporting Variants
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390182
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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