A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762005



Internal ID20537865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53105822..53105822hg38UCSC Ensembl
chr12:53499606..53499606hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277530
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762005
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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