A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247369



Internal ID22376693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105675061..105680779hg38UCSC Ensembl
Outerchr12:106068839..106074557hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255442, nssv14255436, nssv14255437, nssv14255435, nssv14255439, nssv14255438, nssv14255440, nssv14255443, nssv14255441
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247369
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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