A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287612



Internal ID22386017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49489788..49489848hg38UCSC Ensembl
chr15:49781985..49782045hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2921n152
Supporting Variantsnssv14430275
SamplesHG00514
Known GenesFAM227B
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)nsv3287612
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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