A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257290



Internal ID22144921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27060305..27074180hg38UCSC Ensembl
Outerchr13:27634442..27648317hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg382213
hg192213
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239801
Supporting Variants
SamplesHG00514
Known GenesUSP12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257290
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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