A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18170551



Internal ID20737591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67654401..67658700hg38UCSC Ensembl
chr8:68566636..68570935hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428758
Supporting Variants
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18170551
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00043


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