A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447138



Internal ID225450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132786371..132786462hg38UCSC Ensembl
chr3:132505215..132505306hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939973
Samples
Known GenesNPHP3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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