A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244129



Internal ID22375775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23615400..23620383hg38UCSC Ensembl
chr4:23617023..23622006hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384984
hg194984
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435095
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244129
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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