A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868150



Internal ID22643085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48244802..48244885hg38UCSC Ensembl
chr1:48710474..48710557hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384163
Samples
Known GenesSLC5A9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868150
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