A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244315



Internal ID22375827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:34929836..34946122hg38UCSC Ensembl
Outerchr21:36302133..36318419hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268160
SamplesNA19238
Known GenesRUNX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244315
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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