A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089276



Internal ID21491550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360962..47360962hg38UCSC Ensembl
chr12:47754745..47754745hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656302
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089276
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