A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549558



Internal ID22418501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22231668..22231668hg38UCSC Ensembl
chr18:19811631..19811631hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392967
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549558
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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