A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185636



Internal ID20752676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48127034..48140358hg38UCSC Ensembl
chr15:48419231..48432555hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3813325
hg1913325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496924
Supporting Variants
Samples
Known GenesMYEF2, SLC24A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185636
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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