A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595759



Internal ID21544366
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 Variantsnssv17096366
SamplesHG02011
Known GenesATP2C2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595759
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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