A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214018



Internal ID22360789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6395826..6402700hg38UCSC Ensembl
Outerchr12:6504992..6511866hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386875
hg196875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255231
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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