A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028205



Internal ID21937548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18880988..19040756hg38UCSC Ensembl
chr16:18892310..19052078hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38159769
hg19159769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604004
Samples
Known GenesSMG1, TMC7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028205
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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