A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380656



Internal ID22438526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6088632..6666492hg38UCSC Ensembl
chr16:6138633..6716493hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38577861
hg19577861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946601
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380656
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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