A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932172



Internal ID22707465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6345004..6653510hg38UCSC Ensembl
chr16:6395005..6703511hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38308507
hg19308507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383831
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932172
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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