A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180643



Internal ID22336166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10087984..10088288hg38UCSC Ensembl
chr19:10198660..10198964hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432401
SamplesHG00514
Known GenesC19orf66
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)nsv3180643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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