A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694960



Internal ID118626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31243548..31256296hg38UCSC Ensembl
chr14:31712754..31725502hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3812749
hg1912749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504877
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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