A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943858



Internal ID22719313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12697257..12698142hg38UCSC Ensembl
chr16:12791114..12791999hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382468
Samples
Known GenesCPPED1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943858
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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