A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4735689



Internal ID20511632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608873..107608979hg38UCSC Ensembl
chr12:108002650..108002756hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269096
Samples
Known GenesBTBD11
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4735689
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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