A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517438



Internal ID293860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48275348..48277940hg38UCSC Ensembl
chr15:48567545..48570137hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg382593
hg192593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699813
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517438
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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