A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087585



Internal ID20654625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55361301..55364200hg38UCSC Ensembl
chr2:55588437..55591336hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350717
Supporting Variants
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087585
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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