A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641817



Internal ID21590122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142596352..142596352hg38UCSC Ensembl
chr5:141975917..141975917hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121263
SamplesHG00731
Known GenesFGF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641817
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