A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470289



Internal ID248057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37672314..37672374hg38UCSC Ensembl
chr4:37673936..37673996hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947416
Samples
Known GenesRELL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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