A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557798



Internal ID22426603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157547704..157547704hg38UCSC Ensembl
chr6:157968736..157968736hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386346
hg196346
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465718, nssv14401207
SamplesNA19240, HG00733
Known GenesZDHHC14
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557798
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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