A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695288



Internal ID118954
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 StatusS
Merged Variantsnsv5495905
Supporting Variants
Samples
Known GenesRNASE11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695288
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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