A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384673



Internal ID22442543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51755466..51755569hg38UCSC Ensembl
chr16:51789377..51789480hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945457
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384673
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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