A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17099040



Internal ID21460897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142132hg38UCSC Ensembl
chr13:44716268..44716268hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646364
Supporting Variants
SamplesHG02818
Known GenesSMIM2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17099040
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