A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281149



Internal ID22379470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58074514..58074578hg38UCSC Ensembl
chr1:58540186..58540250hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232n152
Supporting Variantsnssv14425929
SamplesHG00514
Known GenesDAB1
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)nsv3281149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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