A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750252



Internal ID20526288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12393045..12393955hg38UCSC Ensembl
chr6:12393277..12394187hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259426
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750252
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