A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910172



Internal ID7554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17769533..17769595hg38UCSC Ensembl
chr2:17950800..17950862hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435529
Supporting Variants
Samples
Known GenesGEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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