A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366206



Internal ID22591875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122039112..122040349hg38UCSC Ensembl
chr12:122477018..122478255hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931554
Supporting Variants
Samples
Known GenesBCL7A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366206
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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