A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509171



Internal ID285835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70579095..70583511hg38UCSC Ensembl
chr14:71045812..71050228hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384417
hg194417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696434
Samples
Known GenesMED6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509171
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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