A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18267947



Internal ID20834987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132336134..132336969hg38UCSC Ensembl
chr5:131671827..131672662hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6557471
Supporting Variants
Samples
Known GenesLOC553103, SLC22A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18267947
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00017


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