A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256229



Internal ID22189692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129811645..129868059hg38UCSC Ensembl
Outerchr12:130296190..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234958
Supporting Variants
SamplesHG00731
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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