A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183236



Internal ID22337516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10536798..10537126hg38UCSC Ensembl
chr21:9448718..9449046hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434024, nssv14456060
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183236
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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