A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18170250



Internal ID20737290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86490002..86496588hg38UCSC Ensembl
chr8:87502231..87508817hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386587
hg196587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425108
Supporting Variants
Samples
Known GenesRMDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18170250
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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