A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926372



Internal ID18309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234065455..234122636hg38UCSC Ensembl
chr2:234974099..235031280hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3857182
hg1957182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435735
Supporting Variants
Samples
Known GenesSPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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