A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244427



Internal ID22375858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:127535517..127572716hg38UCSC Ensembl
Outerchr12:128020062..128057261hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257022, nssv14257026, nssv14257025, nssv14257018, nssv14257019, nssv14257021, nssv14257024, nssv14257023, nssv14257020
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244427
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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