A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429933



Internal ID208764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168971568..168975778hg38UCSC Ensembl
chr1:168940806..168945016hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891861
Samples
Known GenesLINC00970
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429933
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