A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970254



Internal ID22745189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29065443..29066676hg38UCSC Ensembl
chr18:26645407..26646640hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382307
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970254
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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