A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924500



Internal ID22699727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48719344..48719960hg38UCSC Ensembl
chr8:49631903..49632519hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448837
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924500
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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