A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280369



Internal ID22378680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85666218..85666487hg38UCSC Ensembl
chr2:85893341..85893610hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461970
SamplesHG00733
Known GenesSFTPB
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)nsv3280369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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