A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520016



Internal ID22389424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24076506..24076805hg38UCSC Ensembl
chr1:24402996..24403295hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146n152
Supporting Variantsnssv14356635, nssv14356636, nssv14356638, nssv14356637, nssv14356639
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesMYOM3
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)nsv3520016
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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