A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235266



Internal ID22373246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8441867..8461813hg38UCSC Ensembl
Outerchr12:8594463..8614409hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382230
hg192230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256310, nssv14256311
SamplesNA19239, NA19240
Known GenesCLEC6A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235266
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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