A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241173



Internal ID22374902
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 StatusM
Merged Variants
Supporting Variantsnssv14407943, nssv14466943
SamplesNA19240, HG00733
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)nsv3241173
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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