A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458442



Internal ID21115995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32296867..32301920hg38UCSC Ensembl
chr12:32449801..32454854hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385054
hg195054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000747
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458442
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