A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18170249



Internal ID20737289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86480001..86480900hg38UCSC Ensembl
chr8:87492230..87493129hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432552
Supporting Variants
Samples
Known GenesRMDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18170249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00065


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