A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622241



Internal ID21570546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4612586..4612586hg38UCSC Ensembl
chr2:4660176..4660176hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113435, nssv17113436
SamplesNA12878, HG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622241
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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