A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557970



Internal ID331048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22989634..22989685hg38UCSC Ensembl
chr14:23458843..23458894hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382715
hg192715
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693949
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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