A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117337



Internal ID21406922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50816137..50816137hg38UCSC Ensembl
chr20:49432674..49432674hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668951
Supporting Variants
SamplesHG00512
Known GenesBCAS4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117337
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