A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380040



Internal ID22437910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7696510..7696510hg38UCSC Ensembl
chr16:7746512..7746512hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971755
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380040
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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