A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248251



Internal ID22376929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:67987738..67990825hg38UCSC Ensembl
Outerchr12:68381518..68384605hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386346
hg196346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256015
SamplesHG00512
Known GenesIFNG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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