A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484036



Internal ID261459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38697813..38761290hg38UCSC Ensembl
chr7:38737413..38800890hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3863478
hg1963478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995134
Samples
Known GenesVPS41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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