A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433186



Internal ID22176103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4185398..4185682hg38UCSC Ensembl
chr20:4166045..4166329hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178837
Supporting Variants
SamplesHG00514
Known GenesSMOX
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)nssv14433186
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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