A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235836



Internal ID22373406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2997379..2997460hg38UCSC Ensembl
chr18:2997377..2997458hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453382, nssv14431714
SamplesHG00733, HG00514
Known GenesLPIN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235836
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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