A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525604



Internal ID301758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48256055..48256127hg38UCSC Ensembl
chr15:48548252..48548324hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699808
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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