A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378916



Internal ID22436786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36420561..36421782hg38UCSC Ensembl
chr18:34000524..34001745hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975997
Supporting Variants
Samples
Known GenesFHOD3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378916
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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