A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230046



Internal ID20797086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11325701..11333800hg38UCSC Ensembl
chr8:11183210..11191309hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427015
Supporting Variants
Samples
Known GenesMTMR9, SLC35G5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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