A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374553



Internal ID22600222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1814636..1901904hg38UCSC Ensembl
chr16:1864637..1951905hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3887269
hg1987269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941042
Supporting Variants
Samples
Known GenesFAHD1, HAGH, LINC00254, MEIOB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374553
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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