A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281467



Internal ID22379792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160071924..160071995hg38UCSC Ensembl
chr3:159789711..159789782hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6221n152
Supporting Variantsnssv14434977
SamplesHG00514
Known GenesIL12A-AS1
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)nsv3281467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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