A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927268



Internal ID18894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173383574..173383793hg38UCSC Ensembl
chr2:174248302..174248521hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453232
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927268
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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