A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973567



Internal ID22748502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192830119..193074177hg38UCSC Ensembl
chr1:192799249..193043307hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38244059
hg19244059
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364097
Samples
Known GenesTROVE2, UCHL5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973567
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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