A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558208



Internal ID331280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56193042..56193093hg38UCSC Ensembl
chr15:56485240..56485291hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381861
hg191861
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699846
Samples
Known GenesRFX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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