A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17150862



Internal ID21404731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124455068..124455068hg38UCSC Ensembl
chr8:125467309..125467309hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5631657
Supporting Variants
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17150862
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