A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725914



Internal ID149580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6049842..6049951hg38UCSC Ensembl
chr20:6030488..6030597hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521467
Supporting Variants
Samples
Known GenesLRRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725914
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010934


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