A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925412



Internal ID17688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146916540..146916629hg38UCSC Ensembl
chr2:147674108..147674197hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437632
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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