A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694005



Internal ID117671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30703822..30703849hg38UCSC Ensembl
chr14:31173028..31173055hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547338
Supporting Variants
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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