A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048688



Internal ID21957922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29751478..29752690hg38UCSC Ensembl
chr21:31123797..31125009hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648844
Samples
Known GenesGRIK1, GRIK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048688
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