A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255213



Internal ID22253621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109554786..109558047hg38UCSC Ensembl
Outerchr12:109992591..109995852hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216504
Supporting Variants
SamplesNA19238
Known GenesMMAB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255213
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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