A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378563



Internal ID22436433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58507231..58507231hg38UCSC Ensembl
chr14:58973949..58973949hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971853
Supporting Variants
Samples
Known GenesKIAA0586
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378563
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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