A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5856450



Internal ID22631385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120244403..120246091hg38UCSC Ensembl
chr12:120682206..120683894hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381689
hg191689
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17452934, nssv17461327
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5856450
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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