A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983141



Internal ID21892484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240785841..240798111hg38UCSC Ensembl
chr1:240949141..240961411hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3812271
hg1912271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533084
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983141
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