A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608548



Internal ID21556853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46292787..46292787hg38UCSC Ensembl
chr2:46519926..46519926hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113441
SamplesHG03009
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608548
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