A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555929



Internal ID22424762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70227583..70227583hg38UCSC Ensembl
chr4:71093300..71093300hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424854
SamplesHG00514
Known GenesFDCSP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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