A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943602



Internal ID22719053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56883819..56883893hg38UCSC Ensembl
chr16:56917731..56917805hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376919
Samples
Known GenesSLC12A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943602
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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