A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081247



Internal ID20648287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165716214..165724290hg38UCSC Ensembl
chr2:166572724..166580800hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg388077
hg198077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352406
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081247
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