A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742771



Internal ID20518756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13394341..13400418hg38UCSC Ensembl
chr12:13547275..13553352hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386078
hg196078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n199
Supporting Variantsnssv16272631
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742771
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