A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255266



Internal ID22268843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6946318..6964193hg38UCSC Ensembl
Outerchr12:7055481..7073356hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382431
hg192431
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245210
Supporting Variants
SamplesNA19238
Known GenesMIR141, MIR200C, PTPN6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255266
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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