A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232570



Internal ID22372537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5903047..5942440hg38UCSC Ensembl
Outerchr12:6012213..6051606hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1694n152
Supporting Variantsnssv14256180, nssv14256186, nssv14256183, nssv14256184, nssv14256185, nssv14256181, nssv14256182
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232570
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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