A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5634283



Internal ID21582588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69494213..69494213hg38UCSC Ensembl
chr8:70406448..70406448hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157337
SamplesNA20847
Known GenesSULF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5634283
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