A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396546



Internal ID175962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69886554..69886605hg38UCSC Ensembl
chr3:69935705..69935756hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934093
Samples
Known GenesMITF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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