A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693468



Internal ID117134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24948635..24948686hg38UCSC Ensembl
chr14:25417841..25417892hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560936
Supporting Variants
Samples
Known GenesSTXBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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