A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282296



Internal ID22380629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157967697..157967768hg38UCSC Ensembl
chr1:157937487..157937558hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406892
SamplesNA19240
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)nsv3282296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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