A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212217



Internal ID20779257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186790035..186919129hg38UCSC Ensembl
chr3:186507824..186636918hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38129095
hg19129095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366089
Supporting Variants
Samples
Known GenesADIPOQ, ADIPOQ-AS1, RFC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212217
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