A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232314



Internal ID22372470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1566862..1639081hg38UCSC Ensembl
Outerchr12:1676028..1748247hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382166
hg192166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255647, nssv14255644, nssv14255646, nssv14255641, nssv14255643, nssv14255640, nssv14255645, nssv14255642
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesFBXL14, WNT5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232314
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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