A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287403



Internal ID22385806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30869882..30869959hg38UCSC Ensembl
chr12:31022816..31022893hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421277
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)nsv3287403
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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