A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386015



Internal ID22443885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36173578..36173578hg38UCSC Ensembl
chr14:36642784..36642784hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973049
Supporting Variants
Samples
Known GenesPTCSC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386015
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