A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116621



Internal ID21462555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53050156..53050156hg38UCSC Ensembl
chr20:51666695..51666695hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669181
Supporting Variants
SamplesHG03009
Known GenesTSHZ2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116621
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