A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512860



Internal ID20886200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70266051..70336782hg38UCSC Ensembl
chr16:70299954..70370685hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3870732
hg1970732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179376
Samples
Known GenesAARS, DDX19B, LOC100506083
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512860
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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