A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437420



Internal ID216010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150425349..150431080hg38UCSC Ensembl
chr3:150143136..150148867hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg385732
hg195732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939010
Samples
Known GenesTSC22D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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