A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764640



Internal ID20540500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252276..51252276hg38UCSC Ensembl
chr14:51718994..51718994hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293059
Samples
Known GenesTMX1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764640
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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