A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113230



Internal ID21296496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70144118..70368558hg38UCSC Ensembl
Innerchr14:70610835..70835275hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38224441
hg19224441
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14095085
Samplessample345
Known GenesADAM21P1, COX16, SLC8A3, SYNJ2BP, SYNJ2BP-COX16
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113230
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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