A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188147



Internal ID22340105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196317470..196317580hg38UCSC Ensembl
chr3:196044341..196044451hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398295
SamplesNA19240
Known GenesTCTEX1D2, TM4SF19-TCTEX1D2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188147
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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