A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613521



Internal ID21561826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149904818..149904818hg38UCSC Ensembl
chr1:149876370..149876370hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3818045
hg1918045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060620
SamplesHG00513
Known GenesSV2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613521
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