A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483614



Internal ID261049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44637703..44643991hg38UCSC Ensembl
chr7:44677302..44683590hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386289
hg196289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995506
Samples
Known GenesOGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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