A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256132



Internal ID22220941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25346685..25350232hg38UCSC Ensembl
Outerchr12:25499619..25503166hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234116
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256132
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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