A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384200



Internal ID22442070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96304995..96304995hg38UCSC Ensembl
chr14:96771332..96771332hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968573
Supporting Variants
Samples
Known GenesATG2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384200
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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