A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231706



Internal ID22372308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6350085..6363466hg38UCSC Ensembl
Outerchr12:6459251..6472632hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256200, nssv14256202, nssv14256201, nssv14256198, nssv14256197, nssv14256199
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesSCNN1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231706
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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