A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699253



Internal ID122919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73943384..73943435hg38UCSC Ensembl
chr14:74410087..74410138hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554108
Supporting Variants
Samples
Known GenesFAM161B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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