A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551167



Internal ID324647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28761022..28761025hg38UCSC Ensembl
chr14:29230228..29230231hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695443
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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