A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239752



Internal ID22374512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41244528..41244579hg38UCSC Ensembl
chr21:42616455..42616506hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407707
SamplesNA19240
Known GenesBACE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239752
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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