A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446929



Internal ID225247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138451869..138452052hg38UCSC Ensembl
chr3:138170711..138170894hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940012
Samples
Known GenesESYT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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