A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973212



Internal ID22748147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121858185..122522926hg38UCSC Ensembl
chr3:121577032..122241773hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38664742
hg19664742
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390531
Samples
Known GenesCASR, CCDC58, CD86, CSTA, EAF2, FAM162A, ILDR1, KPNA1, SLC15A2, WDR5B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973212
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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