A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272513



Internal ID20481731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822381..64822381hg38UCSC Ensembl
chr14:65289099..65289099hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757833
Supporting Variants
Samples
Known GenesSPTB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272513
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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