A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5865251



Internal ID22640186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131752012..131754406hg38UCSC Ensembl
chr12:132236557..132238951hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17461486, nssv17469114
Samples
Known GenesSFSWAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5865251
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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