A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894824



Internal ID22669900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130684362..130684417hg38UCSC Ensembl
chr6:131005507..131005562hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424631
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894824
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