A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971655



Internal ID22746590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89833182..89836141hg38UCSC Ensembl
chr14:90299526..90302485hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382960
hg192960
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380425
Samples
Known GenesEFCAB11
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971655
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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