A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448806



Internal ID227064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187246640..187247890hg38UCSC Ensembl
chr3:186964428..186965678hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942647
Samples
Known GenesMASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448806
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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