A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614069



Internal ID21562374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3448578..3448578hg38UCSC Ensembl
chr2:3452349..3452349hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114026, nssv17114025
SamplesNA19239, HG00731
Known GenesTRAPPC12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614069
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