A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888582



Internal ID22663590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46802705..48210414hg38UCSC Ensembl
chr3:46844195..48251904hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381407710
hg191407710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419219
Samples
Known GenesCCDC12, CDC25A, CSPG5, DHX30, ELP6, KIF9, KIF9-AS1, KLHL18, MAP4, MIR1226, MIR4443, MYL3, NBEAL2, NRADDP, PRSS42, PTH1R, PTPN23, SCAP, SETD2, SMARCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888582
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