A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179412



Internal ID22335543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29183998..29184294hg38UCSC Ensembl
chr1:29510510..29510806hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446554
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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