A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503858



Internal ID20877115
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 StatusM
Merged Variants
Supporting Variantsnssv18178186
Samples
Known GenesGNAO1, LOC283856
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503858
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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