A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164002



Internal ID20731042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123126688..123132421hg38UCSC Ensembl
chr8:124138928..124144661hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385734
hg195734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6424215
Supporting Variants
Samples
Known GenesTBC1D31
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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