A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028707



Internal ID21938050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32133456..32142166hg38UCSC Ensembl
chr12:32286390..32295100hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388711
hg198711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610862
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028707
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