A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243712



Internal ID22375653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:74098061..74116032hg38UCSC Ensembl
Outerchr10:75857819..75875790hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3817164
hg1917164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253405
SamplesHG00512
Known GenesVCL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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