A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500554



Internal ID20873781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1939413..1950861hg38UCSC Ensembl
chr16:1989414..2000862hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811449
hg1911449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180103
Samples
Known GenesMSRB1, RPL3L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500554
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