A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184159



Internal ID22337999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126417904..126418218hg38UCSC Ensembl
chr10:128106473..128106787hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1095n152
Supporting Variantsnssv14413874, nssv14387354, nssv14440937
SamplesNA19240, HG00733, HG00514
Known GenesLINC00601
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184159
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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