A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225227



Internal ID22368424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33084701..33137692hg38UCSC Ensembl
Outerchr12:33237635..33290626hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3852992
hg1952992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256376
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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