A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230931



Internal ID22372076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65412908..65429915hg38UCSC Ensembl
Outerchr12:65806688..65823695hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255930, nssv14255932, nssv14255931, nssv14255929, nssv14255928
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known GenesMSRB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230931
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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