A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947897



Internal ID22723389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65200880..65200880hg38UCSC Ensembl
chr8:66113115..66113115hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436041
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947897
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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