A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223145



Internal ID22367002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101331963..101368888hg38UCSC Ensembl
Outerchr12:101725741..101762666hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3836926
hg1936926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255795
SamplesHG00512
Known GenesUTP20
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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