A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281070



Internal ID22379388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4616429..4616572hg38UCSC Ensembl
chr1:4676489..4676632hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73n152
Supporting Variantsnssv14437616, nssv14412128
SamplesNA19240, HG00514
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)nsv3281070
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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