A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086397



Internal ID20653437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38830521..38837504hg38UCSC Ensembl
chr2:39057663..39064646hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386984
hg196984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341481
Supporting Variants
Samples
Known GenesDHX57
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086397
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