A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975331



Internal ID22750266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197787657..197788855hg38UCSC Ensembl
chr1:197756787..197757985hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359223
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975331
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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