A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244748



Internal ID22375947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35221491..35222401hg38UCSC Ensembl
Outerchr11:35243038..35243948hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3815918
hg1915918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255695, nssv14255694
SamplesHG00512, HG00514
Known GenesCD44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244748
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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