A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236250



Internal ID22373529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4632873..4646311hg38UCSC Ensembl
Outerchr12:4742039..4755477hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256177, nssv14256175, nssv14256178, nssv14256176, nssv14256179
SamplesHG00512, NA19238, NA19239, HG00513, HG00514
Known GenesAKAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236250
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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