A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469924



Internal ID21127477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32356655..32362397hg38UCSC Ensembl
chr12:32509589..32515331hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385743
hg195743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000753
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469924
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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