A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432829



Internal ID22175717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27770663..27770731hg38UCSC Ensembl
chr22:28166651..28166719hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174479
Supporting Variants
SamplesHG00514
Known GenesMN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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