A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248803



Internal ID22377091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108111477..108115067hg38UCSC Ensembl
Outerchr11:107982204..107985794hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255718
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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