A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936908



Internal ID22712269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19489000..19489054hg38UCSC Ensembl
chr16:19500322..19500376hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376156
Samples
Known GenesTMC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936908
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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