A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551457



Internal ID324910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15166583..15166585hg38UCSC Ensembl
chr12:15319517..15319519hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054284
Samples
Known GenesRERG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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