A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979691



Internal ID22754626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57277715..57277715hg38UCSC Ensembl
chr14:57744433..57744433hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380633
Samples
Known GenesAP5M1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979691
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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