A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182506



Internal ID22337136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193436812..193437118hg38UCSC Ensembl
chr3:193154601..193154907hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6316n152
Supporting Variantsnssv14310256, nssv14310257
SamplesNA19239, NA19240
Known GenesATP13A4
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)nsv3182506
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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