A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194473



Internal ID21333371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73719828..73719828hg38UCSC Ensembl
chr14:74186531..74186531hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935636
Supporting Variants
SamplesHG002
Known GenesELMSAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194473
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