A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18162488



Internal ID20729528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102382726..102399366hg38UCSC Ensembl
chr8:103394954..103411594hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3816641
hg1916641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431848
Supporting Variants
Samples
Known GenesUBR5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18162488
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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