A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763597



Internal ID20539457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27819348..27819348hg38UCSC Ensembl
chr12:27972281..27972281hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275413
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763597
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