A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5625263



Internal ID21573568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130153357..130153357hg38UCSC Ensembl
chr8:131165603..131165603hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150265
SamplesHG01114
Known GenesASAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5625263
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