A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419416



Internal ID198547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121409417..121622500hg38UCSC Ensembl
chr1:121151277..121364298hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38213084
hg19213022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n206
Supporting Variantsnssv16889711
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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