A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241758



Internal ID22375060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122565968..122617748hg38UCSC Ensembl
Outerchr10:124325484..124377264hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252840, nssv14252841
SamplesNA19238, HG00513
Known GenesDMBT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241758
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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