A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469401



Internal ID22527291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3809606..3822951hg38UCSC Ensembl
chr12:3918772..3932117hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813346
hg1913346
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866164
Supporting Variants
Samples
Known GenesPARP11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469401
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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