A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255538



Internal ID22255301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17418306..17456339hg38UCSC Ensembl
Outerchr12:17571240..17609273hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3838034
hg1938034
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217484
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255538
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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