A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933300



Internal ID22708611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25218721..25219877hg38UCSC Ensembl
chr16:25230042..25231198hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371845
Samples
Known GenesAQP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933300
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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