A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234258



Internal ID22372979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70933732..70963372hg38UCSC Ensembl
Outerchr12:71327512..71357152hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3813420
hg1913420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255383, nssv14255382, nssv14255381, nssv14255379, nssv14255380
SamplesHG00512, NA19238, NA19239, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234258
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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