A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242819



Internal ID22375392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132129392..132167912hg38UCSC Ensembl
Outerchr12:132613937..132652457hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256130, nssv14256131
SamplesHG00732, HG00733
Known GenesDDX51, NOC4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242819
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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