A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970552



Internal ID22745487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115479797..115483860hg38UCSC Ensembl
chr5:114815494..114819557hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg384064
hg194064
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424603
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970552
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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