A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945251



Internal ID22720725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59691498..59692190hg38UCSC Ensembl
chr17:57768859..57769551hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388774
Samples
Known GenesCLTC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945251
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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