A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973194



Internal ID22748129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16500132..16507881hg38UCSC Ensembl
chr3:16541639..16549388hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg387750
hg197750
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426361
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973194
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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