A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500939



Internal ID20874169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19466420..19547137hg38UCSC Ensembl
chr16:19477742..19558459hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3880718
hg1980718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194747
Samples
Known GenesCCP110, GDE1, TMC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500939
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer