A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507124



Internal ID283853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21355402..21356601hg38UCSC Ensembl
chr14:21823561..21824760hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695326
Samples
Known GenesSUPT16H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507124
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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