A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432947



Internal ID211676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85264947..85265108hg38UCSC Ensembl
chr1:85730630..85730791hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905540
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432947
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