A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086667



Internal ID20653707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232904285..232905271hg38UCSC Ensembl
chr2:233768995..233769981hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338516
Supporting Variants
Samples
Known GenesNGEF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086667
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