A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6562879



Internal ID20935950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78952820..79153510hg38UCSC Ensembl
chr5:78248643..78449333hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38200691
hg19200691
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18270281
Samples
Known GenesARSB, BHMT, BHMT2, DMGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6562879
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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