A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500412



Internal ID277348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20785698..20787005hg38UCSC Ensembl
chr14:21253857..21255164hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695300
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500412
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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