A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2794457



Internal ID21239795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822374..64822374hg38UCSC Ensembl
chr14:65289092..65289092hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13688064
Samples
Known GenesSPTB
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2794457
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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