A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389152



Internal ID22447022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30160025..30166119hg38UCSC Ensembl
chr16:30171346..30177440hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386095
hg196095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5938208
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389152
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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