A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243572



Internal ID22375614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35230091..35245792hg38UCSC Ensembl
Outerchr11:35251638..35267339hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255749
SamplesHG00513
Known GenesCD44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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