A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540091



Internal ID22409240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43904757..43904757hg38UCSC Ensembl
chr1:44370429..44370429hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381485, nssv14413601
SamplesNA19240, HG00514
Known GenesST3GAL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540091
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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