A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917000



Internal ID22692219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11377436..11451484hg38UCSC Ensembl
chr8:11234945..11308993hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3874049
hg1974049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447596
Samples
Known GenesC8orf12, FAM167A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917000
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