A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280891



Internal ID22379207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112139963..112140017hg38UCSC Ensembl
chr2:112897540..112897594hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463253
SamplesHG00733
Known GenesFBLN7
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)nsv3280891
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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