A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558436



Internal ID22427239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78693730..78693730hg38UCSC Ensembl
chr8:79605965..79605965hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428607
SamplesHG00514
Known GenesZC2HC1A
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)nsv3558436
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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