A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407707



Internal ID22296758
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 StatusS
Merged Variantsnsv3239752
Supporting Variants
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)nssv14407707
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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