A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936982



Internal ID22712343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30079443..30080759hg38UCSC Ensembl
chr16:30090764..30092080hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385824
Samples
Known GenesPPP4C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936982
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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