A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171751



Internal ID22331457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192641104..192641405hg38UCSC Ensembl
chr3:192358893..192359194hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6315n152
Supporting Variantsnssv14435379
SamplesHG00514
Known GenesFGF12
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)nsv3171751
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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