A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904985



Internal ID22680165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138955676..138955992hg38UCSC Ensembl
chr5:138291365..138291681hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409892
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904985
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