A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444370



Internal ID222745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172968823..172979707hg38UCSC Ensembl
chr3:172686613..172697497hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3810885
hg1910885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941398
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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