A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376156



Internal ID22601825
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 StatusS
Merged Variantsnsv5936908
Supporting Variants
Samples
Known GenesTMC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376156
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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