A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630751



Internal ID21579056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5649467..5649467hg38UCSC Ensembl
chr6:5649700..5649700hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg382339
hg192339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17156442
SamplesHG03732
Known GenesFARS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630751
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