A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542110



Internal ID22411191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110117922..110117922hg38UCSC Ensembl
chr4:111039078..111039078hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397962
SamplesNA19240
Known GenesELOVL6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542110
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer