A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472100



Internal ID22529992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7679346..7682078hg38UCSC Ensembl
chr18:7679344..7682076hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg382733
hg192733
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873924
Supporting Variants
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472100
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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