A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205751



Internal ID20772791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10010915..10140233hg38UCSC Ensembl
chr2:10151042..10280360hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38129319
hg19129319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339652
Supporting Variants
Samples
Known GenesCYS1, KLF11, RRM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205751
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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