A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086106



Internal ID20653146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49315169..49435335hg38UCSC Ensembl
chr2:49542308..49662473hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38120167
hg19120166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347278
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086106
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