A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912509



Internal ID9091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39001719..39001824hg38UCSC Ensembl
chr2:39228860..39228965hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441166
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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