A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473295



Internal ID21130848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32153080..32160711hg38UCSC Ensembl
chr12:32306014..32313645hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387632
hg197632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000739
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473295
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