A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234637



Internal ID22373086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45682005..45748605hg38UCSC Ensembl
Outerchr12:46075788..46142388hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3850682
hg1950682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256004
SamplesHG00512
Known GenesARID2, LINC00938
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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