A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14095346



Internal ID21269204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25049405..25052132hg38UCSC Ensembl
Innerchr14:25518611..25521338hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382728
hg192728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113955
Supporting Variants
Samplessample136
Known GenesSTXBP6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14095346
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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