A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920703



Internal ID14585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140426463..140432135hg38UCSC Ensembl
chr2:141184032..141189704hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385673
hg195673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140249
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011243


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