A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282917



Internal ID22381255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113130529..113130701hg38UCSC Ensembl
chr2:113888106..113888278hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457154
SamplesHG00733
Known GenesIL1RN
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)nsv3282917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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