A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547673



Internal ID321497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393687..100393725hg38UCSC Ensembl
chr3:100112531..100112569hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937092
Samples
Known GenesTOMM70A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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