A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928659



Internal ID22703902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50168956..50173987hg38UCSC Ensembl
chr16:50202867..50207898hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385032
hg195032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380294
Samples
Known GenesPAPD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928659
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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