A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541518



Internal ID316106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122842144..122842177hg38UCSC Ensembl
chr3:122560991..122561024hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936592
Samples
Known GenesDIRC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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