A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235085



Internal ID22373200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186693363..186693691hg38UCSC Ensembl
chr4:187614517..187614845hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409589, nssv14434358
SamplesNA19240, HG00514
Known GenesFAT1
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)nsv3235085
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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