A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137143



Internal ID20704183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116321601..116326100hg38UCSC Ensembl
chr6:116642764..116647263hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6615208
Supporting Variants
Samples
Known GenesDSE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137143
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00025


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