A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194478



Internal ID21333376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81010864..81010864hg38UCSC Ensembl
chr14:81477208..81477208hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386045
hg196045
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927656
Supporting Variants
SamplesHG002
Known GenesTSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194478
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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