A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508252



Internal ID20881551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18893544..19249817hg38UCSC Ensembl
chr16:18904866..19261139hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38356274
hg19356274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195299
Samples
Known GenesCOQ7, ITPRIPL2, SMG1, SYT17, TMC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508252
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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