A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255818



Internal ID22131554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54722283..54778787hg38UCSC Ensembl
Outerchr12:55116067..55172571hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3856505
hg1956505
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212109
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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