A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17086093



Internal ID21474192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16452346..16452346hg38UCSC Ensembl
chr17:16355660..16355660hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5660725
Supporting Variants
SamplesHG03371
Known GenesFAM211A, FAM211A-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17086093
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