A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693978



Internal ID117644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23596629..23596629hg38UCSC Ensembl
chr14:24065838..24065838hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541068
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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