A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385471



Internal ID22443341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57540450..57680961hg38UCSC Ensembl
chr14:58007168..58147679hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38140512
hg19140512
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969326
Supporting Variants
Samples
Known GenesSLC35F4
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385471
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer