A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968647



Internal ID22743582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39251355..42292218hg38UCSC Ensembl
chr14:39720559..42761421hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg383040864
hg193040863
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374958
Samples
Known GenesCTAGE5, FBXO33, LOC100288846, LOC644919, LRFN5, MIA2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968647
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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