A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940135



Internal ID22715540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27205658..27207227hg38UCSC Ensembl
chr16:27216979..27218548hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385035
Samples
Known GenesKDM8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940135
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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