A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768244



Internal ID20544104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56075615..56075615hg38UCSC Ensembl
chr12:56469399..56469399hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286566
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768244
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