A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939679



Internal ID22715076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84396340..84398195hg38UCSC Ensembl
chr16:84429946..84431801hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387920
Samples
Known GenesATP2C2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939679
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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