A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184155



Internal ID22337997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148849006..148849324hg38UCSC Ensembl
chr3:148566793..148567111hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6193n152
Supporting Variantsnssv14461748, nssv14410304, nssv14434952
SamplesNA19240, HG00733, HG00514
Known GenesCPB1
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)nsv3184155
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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