A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495905



Internal ID273001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20585239..20585330hg38UCSC Ensembl
chr14:21053398..21053489hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695288
Samples
Known GenesRNASE11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495905
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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