A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5849312



Internal ID22624247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3832442..3839851hg38UCSC Ensembl
chr12:3941608..3949017hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg387410
hg197410
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457943
Samples
Known GenesPARP11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5849312
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