A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547338



Internal ID321199
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 StatusM
Merged Variants
Supporting Variantsnssv17694005
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547338
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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