A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225215



Internal ID22368415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30590018..30603535hg38UCSC Ensembl
Outerchr12:30742952..30756469hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3813518
hg1913518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255562, nssv14255560, nssv14255561
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225215
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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