A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445100



Internal ID223458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164731077..165066763hg38UCSC Ensembl
chr2:165587587..165923273hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38335687
hg19335687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920305
Samples
Known GenesCOBLL1, SLC38A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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