A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529974



Internal ID305973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3442010..3442130hg38UCSC Ensembl
chr18:3442008..3442128hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715219
Samples
Known GenesTGIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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