A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17098713



Internal ID21403697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42274663..42274663hg38UCSC Ensembl
chr13:42848799..42848799hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5661199
Supporting Variants
SamplesHG00171
Known GenesAKAP11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17098713
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