A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146639



Internal ID345844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43413462..43570462hg38UCSC Ensembl
chr21:44833342..44990343hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38157001
hg19157002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734815
Samples
Known GenesHSF2BP, LINC00313, LINC00319, SIK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146639
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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