A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244429



Internal ID22375860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88677468..88719499hg38UCSC Ensembl
Outerchr14:89143812..89185843hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257857, nssv14257856, nssv14257855
SamplesNA19238, HG00731, HG00513
Known GenesEML5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244429
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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