A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927134



Internal ID18801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240869043..240869151hg38UCSC Ensembl
chr2:241808460..241808568hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446389
Supporting Variants
Samples
Known GenesAGXT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.138776


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