A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469184



Internal ID246974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12211903..12260449hg38UCSC Ensembl
chr7:12251529..12300075hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3848547
hg1948547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n206
Supporting Variantsnssv16993031
Samples
Known GenesTMEM106B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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