A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878561



Internal ID22653527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31260624..31261102hg38UCSC Ensembl
chr1:31733471..31733949hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381301
Samples
Known GenesSNRNP40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878561
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