A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18245149



Internal ID20812189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49743940..49744417hg38UCSC Ensembl
chr17:47821302..47821779hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6586869
Supporting Variants
Samples
Known GenesFAM117A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18245149
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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