A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281511



Internal ID22379837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2142308..2142393hg38UCSC Ensembl
chr1:2073747..2073832hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458545, nssv14432372
SamplesHG00733, HG00514
Known GenesPRKCZ
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)nsv3281511
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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