A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520008



Internal ID21844367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241035759..241035759hg38UCSC Ensembl
chr2:241975176..241975176hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6048484
Supporting Variants
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17520008
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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