A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248377



Internal ID22376967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12215339..12220674hg38UCSC Ensembl
Outerchr10:12257338..12262673hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282807
SamplesNA19238
Known GenesCDC123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248377
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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