A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514263



Internal ID20887615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70179161..70262989hg38UCSC Ensembl
chr16:70213064..70296892hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3883829
hg1983829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196089
Samples
Known GenesAARS, CLEC18C, EXOSC6, LOC100506060
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514263
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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