A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923938



Internal ID16720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222513676..222513735hg38UCSC Ensembl
chr2:223378395..223378454hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139282
Supporting Variants
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00485


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