A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126995



Internal ID21472935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45785548..45785548hg38UCSC Ensembl
chr21:47205462..47205462hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5667488
Supporting Variants
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126995
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