A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451257



Internal ID229443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69022591..69023723hg38UCSC Ensembl
chr3:69071742..69072874hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934042
Samples
Known GenesTMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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