A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229384



Internal ID20796424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113355625..113376198hg38UCSC Ensembl
chr9:116117905..116138478hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3820574
hg1920574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6442134
Supporting Variants
Samples
Known GenesBSPRY, HDHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229384
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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