A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18067666



Internal ID20634707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50530004..50531641hg38UCSC Ensembl
chr20:49146541..49148178hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544781
Supporting Variants
Samples
Known GenesPTPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18067666
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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