A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187748



Internal ID22339892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232639793..232640107hg38UCSC Ensembl
chr1:232775539..232775853hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv605n152
Supporting Variantsnssv14434886
SamplesHG00514
Known Genes
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)nsv3187748
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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