A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695734



Internal ID119400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26527089..26527139hg38UCSC Ensembl
chr14:26996295..26996345hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143964
Supporting Variants
Samples
Known GenesNOVA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.211254


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