A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280195



Internal ID22378506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51580893..51580947hg38UCSC Ensembl
chr1:52046565..52046619hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214n152
Supporting Variantsnssv14423548
SamplesHG00514
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)nsv3280195
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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