A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086408



Internal ID20653448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39002834..39004142hg38UCSC Ensembl
chr2:39229975..39231283hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348866
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086408
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