A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458175



Internal ID21115728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41535587..41536026hg38UCSC Ensembl
chr12:41929389..41929828hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000897
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458175
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