A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280941



Internal ID22379258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196334818..196334958hg38UCSC Ensembl
chr3:196061689..196061829hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434150
SamplesHG00514
Known GenesTM4SF19, TM4SF19-TCTEX1D2
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)nsv3280941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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