A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917375



Internal ID22692594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90879062..90879121hg38UCSC Ensembl
chr8:91891290..91891349hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446823
Samples
Known GenesNECAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917375
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