A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2793631



Internal ID21238969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32454903..32454903hg38UCSC Ensembl
chr14:32924109..32924109hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695022
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2793631
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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