A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505868



Internal ID282631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20686383..20707077hg38UCSC Ensembl
chr14:21154542..21175236hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3820695
hg1920695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695292
Samples
Known GenesANG, RNASE4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505868
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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