A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244481



Internal ID22375871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219411119..219411238hg38UCSC Ensembl
chr1:219584461..219584580hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433290
SamplesHG00514
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)nsv3244481
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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