A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557722



Internal ID22426527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38485067..38485067hg38UCSC Ensembl
chr1:38950739..38950739hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386778, nssv14413579, nssv14440940
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557722
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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