A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13690540



Internal ID21212395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77460458..77460458hg38UCSC Ensembl
chr14:77926801..77926801hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2793702
Supporting Variants
Samples
Known GenesAHSA1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13690540
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.16129


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