A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282082



Internal ID22380412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761973..165762253hg38UCSC Ensembl
chr1:165731210..165731490hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451n152
Supporting Variantsnssv14406191, nssv14456242, nssv14432113
SamplesNA19240, HG00733, HG00514
Known GenesTMCO1
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)nsv3282082
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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