A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211108



Internal ID22358778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139031382..139043603hg38UCSC Ensembl
Outerchr4:139952536..139964757hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274255
SamplesHG00514
Known GenesCCRN4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211108
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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