A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227833



Internal ID22370202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:74232391..74271999hg38UCSC Ensembl
Outerchr12:74626171..74665779hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3839609
hg1939609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1905n152
Supporting Variantsnssv14254792, nssv14254791
SamplesNA19239, HG00514
Known GenesLOC100507377
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227833
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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