A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211439



Internal ID22359001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183169694..183178246hg38UCSC Ensembl
Outerchr3:182887482..182896034hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272005, nssv14272001, nssv14272004, nssv14272006, nssv14272003, nssv14272002
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesMCF2L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211439
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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