A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442773



Internal ID221188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173132456..173132519hg38UCSC Ensembl
chr3:172850246..172850309hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941408
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442773
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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