A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977548



Internal ID22752483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89228619..89245449hg38UCSC Ensembl
chr1:89694302..89711132hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3816831
hg1916831
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401604
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977548
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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