A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279982



Internal ID22378289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222487875..222488132hg38UCSC Ensembl
chr1:222661217..222661474hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv568n152
Supporting Variantsnssv14408515
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3279982
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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