A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549741



Internal ID323367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28807314..28807344hg38UCSC Ensembl
chr14:29276520..29276550hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695450
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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