A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486176



Internal ID263548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137675325..137675384hg38UCSC Ensembl
chr7:137360071..137360130hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003355
Samples
Known GenesDGKI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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