A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483548



Internal ID260982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137472448..137609762hg38UCSC Ensembl
chr7:137157194..137294508hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38137315
hg19137315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003327
Samples
Known GenesDGKI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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