A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221690



Internal ID22365986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64619761..64628720hg38UCSC Ensembl
Outerchr12:65013541..65022500hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg388960
hg198960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254833
SamplesNA19240
Known GenesMIR548C, MIR548Z, RASSF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221690
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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