A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250096



Internal ID22377446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115572694..115572922hg38UCSC Ensembl
chr3:115291541..115291769hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459537
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250096
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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