A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229991



Internal ID20797031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2596063..3281914hg38UCSC Ensembl
chr8:2453154..3139436hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38685852
hg19686283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434526
Supporting Variants
Samples
Known GenesCSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229991
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