A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921173



Internal ID14895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177685103..177714812hg38UCSC Ensembl
chr2:178549831..178579540hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3829710
hg1929710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444696
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921173
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003123


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