A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237715



Internal ID22373953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102993629..103017611hg38UCSC Ensembl
Outerchr10:104753386..104777368hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252902
SamplesHG00732
Known GenesCNNM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237715
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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