A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973717



Internal ID22748652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68441270..68831278hg38UCSC Ensembl
chr14:68907987..69297995hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38390009
hg19390009
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385425
Samples
Known GenesRAD51B, ZFP36L1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973717
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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