A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694887



Internal ID118553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54483340..54483391hg38UCSC Ensembl
chr14:54950058..54950109hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540597
Supporting Variants
Samples
Known GenesGMFB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694887
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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