A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453047



Internal ID231186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172946177..172946273hg38UCSC Ensembl
chr3:172663967..172664063hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941394
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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