A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514946



Internal ID20888301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18878514..18969893hg38UCSC Ensembl
chr16:18889836..18981215hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3891380
hg1991380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184589
Samples
Known GenesSMG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514946
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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