A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523146



Internal ID22392571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42277506..42277821hg38UCSC Ensembl
chr1:42743177..42743492hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195n152
Supporting Variantsnssv14363898, nssv14363896, nssv14363900, nssv14363902, nssv14363901, nssv14363897, nssv14363903, nssv14363899, nssv14363895
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFOXJ3
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)nsv3523146
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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