A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611451



Internal ID21559756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187240926..187240926hg38UCSC Ensembl
chr3:186958714..186958714hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130044
SamplesHG01596
Known GenesMASP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611451
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer