A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457216



Internal ID22251326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6163179..6163470hg38UCSC Ensembl
chr19:6163190..6163481hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176892
Supporting Variants
SamplesHG00733
Known GenesACSBG2
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)nssv14457216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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