A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256281



Internal ID22258221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132931248..132967479hg38UCSC Ensembl
Outerchr12:133507834..133544065hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384452
hg194452
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230582
Supporting Variants
SamplesNA19238
Known GenesZNF605
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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