A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233332



Internal ID22372734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40502508..40523264hg38UCSC Ensembl
Outerchr12:40896310..40917066hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255844
SamplesNA19238
Known GenesMUC19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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