A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255643



Internal ID22188959
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232314
Supporting Variants
SamplesHG00731
Known GenesFBXL14, WNT5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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