A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233250



Internal ID22372708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40137495..40151068hg38UCSC Ensembl
Outerchr12:40531297..40544870hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382228
hg192228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255843, nssv14255842, nssv14255841
SamplesHG00512, NA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233250
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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