A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927807



Internal ID22703038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48258064..48258383hg38UCSC Ensembl
chr15:48550261..48550580hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384817
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927807
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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