A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238697



Internal ID22374233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105226516..105283392hg38UCSC Ensembl
Outerchr14:105692853..105749729hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3811044
hg1911044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258988, nssv14258987
SamplesNA19239, NA19240
Known GenesBRF1, BTBD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238697
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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