A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985171



Internal ID21894514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78138487..78138582hg38UCSC Ensembl
chr1:78604171..78604266hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534905
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985171
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