A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544754



Internal ID22413781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11368711..11368711hg38UCSC Ensembl
chr11:11390258..11390258hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442768
SamplesHG00733
Known GenesGALNT18
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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