A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205209



Internal ID20772249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88824101..88839100hg38UCSC Ensembl
chr1:89289784..89304783hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3815000
hg1915000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316461
Supporting Variants
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205209
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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