A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627948



Internal ID21576253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78524024..78524024hg38UCSC Ensembl
chr8:79436259..79436259hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146403, nssv17150247
SamplesHG03125, HG00731
Known GenesPKIA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627948
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer