A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695937



Internal ID119603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59431775..59431826hg38UCSC Ensembl
chr14:59898493..59898544hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427198
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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