A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17091946



Internal ID21486108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258090..55258090hg38UCSC Ensembl
chr16:55292002..55292002hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657583
Supporting Variants
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17091946
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