A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194518



Internal ID21333420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95293374..95293374hg38UCSC Ensembl
chr14:95759711..95759711hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952172
Supporting Variants
SamplesHG002
Known GenesCLMN
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194518
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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