A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184466



Internal ID22338166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289446..24289754hg38UCSC Ensembl
chr12:24442380..24442688hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1767n152
Supporting Variantsnssv14361619, nssv14361620, nssv14361618, nssv14361617
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesSOX5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184466
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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