A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231121



Internal ID22372138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123428168..123474288hg38UCSC Ensembl
Outerchr12:123912715..123958835hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386350
hg196350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2032n152
Supporting Variantsnssv14256032, nssv14256031
SamplesHG00512, HG00514
Known GenesRILPL1, RILPL2, SNRNP35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231121
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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