A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980143



Internal ID22755078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187575584..187627409hg38UCSC Ensembl
chr1:187544716..187596541hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3851826
hg1951826
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359464
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980143
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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