A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248560



Internal ID20815600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214286627..214287063hg38UCSC Ensembl
chr1:214459970..214460406hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541934
Supporting Variants
Samples
Known GenesSMYD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248560
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00012


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