A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379557



Internal ID22437427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14343669..14437888hg38UCSC Ensembl
chr16:14437526..14531745hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3894220
hg1994220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933152
Supporting Variants
Samples
Known GenesPARN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379557
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