A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244068



Internal ID22375754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:90300042..90303397hg38UCSC Ensembl
Outerchr14:90766386..90769741hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259023
SamplesHG00512
Known GenesNRDE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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