A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227625



Internal ID22370064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20316530..20353503hg38UCSC Ensembl
Outerchr12:20469464..20506437hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3836974
hg1936974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256374, nssv14256375
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227625
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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