A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557982



Internal ID22426786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13658397..13658397hg38UCSC Ensembl
chr1:13984892..13984892hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388149, nssv14438744, nssv14412728
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557982
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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