A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238659



Internal ID22374220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95575650..95585252hg38UCSC Ensembl
Outerchr14:96041987..96051589hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257927, nssv14257930, nssv14257928, nssv14257929, nssv14257931
SamplesNA19238, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238659
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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