A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372267



Internal ID22597936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30064165..30064219hg38UCSC Ensembl
chr16:30075486..30075540hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934278
Supporting Variants
Samples
Known GenesALDOA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372267
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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