A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503523



Internal ID20876778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19006719..19115871hg38UCSC Ensembl
chr16:19018041..19127193hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38109153
hg19109153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195239
Samples
Known GenesCOQ7, ITPRIPL2, TMC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503523
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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