A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613238



Internal ID21561543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152307223..152307223hg38UCSC Ensembl
chr1:152279699..152279699hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060645
SamplesHG03065
Known GenesFLG
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613238
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