A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388220



Internal ID22446090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102171220..102173383hg38UCSC Ensembl
chr14:102637557..102639720hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382164
hg192164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940542
Supporting Variants
Samples
Known GenesWDR20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388220
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