A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16295580



Internal ID20504798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753822..53753822hg38UCSC Ensembl
chr12:54147606..54147606hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4762265
Supporting Variants
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16295580
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