A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256375



Internal ID22241418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20316530..20353503hg38UCSC Ensembl
Outerchr12:20469464..20506437hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3836974
hg1936974
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227625
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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