A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281477



Internal ID22379802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14308656..14308740hg38UCSC Ensembl
chr5:14308765..14308849hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7211n152
Supporting Variantsnssv14409657
SamplesNA19240
Known GenesTRIO
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3281477
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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