A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969928



Internal ID22744863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32784980..32784980hg38UCSC Ensembl
chr14:33254186..33254186hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374228
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969928
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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