A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407943



Internal ID22296440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18987822..18987918hg38UCSC Ensembl
chr21:20360140..20360236hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241173
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14407943
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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