A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178186



Internal ID20745226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56189901..56192400hg38UCSC Ensembl
chr16:56223813..56226312hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503858
Supporting Variants
Samples
Known GenesGNAO1, LOC283856
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178186
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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