A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984705



Internal ID21894048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75570399..75571993hg38UCSC Ensembl
chr1:76036084..76037678hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527150
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984705
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer