A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376111



Internal ID22601780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46789380..46802408hg38UCSC Ensembl
chr16:46823292..46836320hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3813029
hg1913029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928275
Supporting Variants
Samples
Known GenesC16orf87
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376111
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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