A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231148



Internal ID22372150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48435432..48453664hg38UCSC Ensembl
Outerchr12:48829215..48847447hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256008, nssv14256009, nssv14256010
SamplesHG00512, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231148
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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