A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544184



Internal ID22413226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9798721..9798721hg38UCSC Ensembl
chr4_gl000193_random:66035..66035hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3833695
hg1933695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449604
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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