A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216770



Internal ID22362654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65408326..65464054hg38UCSC Ensembl
Outerchr12:65802106..65857834hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3855729
hg1955729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256382
SamplesHG00732
Known GenesMSRB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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