A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498248



Internal ID20871457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7133365..7163921hg38UCSC Ensembl
chr16:7183366..7213922hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3830557
hg1930557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181163
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498248
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